Human Phenotype Ontology 
Grandparent Node:
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Abnormal muscle physiology (HP:0011804)help
Parent Node:
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Muscle weakness (HP:0001324)help
..Starting node
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Generalized muscle weakness (HP:0003324)help
Term ID: 3324
Name: Generalized muscle weakness
Synonym: Generalised muscle weakness; Generalised weakness; Generalized weakness; Muscle weakness, diffuse; Muscle weakness, generalised; Muscle weakness, generalized
Definition: Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.
Comments:
Reference: HP:0003324
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbdominal wall muscle weakness (HP:0009023) help
..expandAnkle weakness (HP:0031374) help
..expandAxial muscle weakness (HP:0003327) help
..expandBulbar palsy (HP:0001283) help
..expandCold paresis (HP:0031372) help
..expandDiaphragmatic weakness (HP:0009113) help
..expandDistal muscle weakness (HP:0002460) help
..expandFacial palsy (HP:0010628) help
..expandFatigable weakness (HP:0003473) help
..expandIntercostal muscle weakness (HP:0004878) help
..expandLimb muscle weakness (HP:0003690) help
..expandLimb-girdle muscle weakness (HP:0003325) help
..expandMuscle flaccidity (HP:0010547) help
..expandNeck muscle weakness (HP:0000467) help
..expandPoor head control (HP:0002421) help
..expandProgressive muscle weakness (HP:0003323) help
..expandProximal muscle weakness (HP:0003701) help
..expandScapuloperoneal weakness (HP:0003704) help
..expandWeakness of muscles of respiration (HP:0004347) help
..expandWeakness of orbicularis oculi muscle (HP:0012507) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003324HP:0003324Generalized muscle weakness0AARS2 CL E G H57505614096Combined oxidative phosphorylation deficiency 8614096C3279793OMIM138721022612035
HP:0003324HP:0003324Generalized muscle weakness0AARS2 CL E G H57505614096Combined oxidative phosphorylation deficiency 8614096C3279793OMIM133821022612035
HP:0003324HP:0003324Generalized muscle weakness0ABCB6 CL E G H10058609153Pseudohyperkalemia, familial, 2, due to red cell leak609153C1836705OMIM18747605452
HP:0003324HP:0003324Generalized muscle weakness0ABCB6 CL E G H10058609153Pseudohyperkalemia, familial, 2, due to red cell leak609153C1836705OMIM18047605452
HP:0003324HP:0003324Generalized muscle weakness0ACAD9 CL E G H2897699901ORPHA142721497611103
HP:0003324HP:0003324Generalized muscle weakness0ACAD9 CL E G H2897699901ORPHA147821497611103
HP:0003324HP:0003324Generalized muscle weakness0ACADL CL E G H3399900ORPHA13588609576
HP:0003324HP:0003324Generalized muscle weakness0ACADL CL E G H3399900ORPHA13388609576
HP:0003324HP:0003324Generalized muscle weakness0ACTA1 CL E G H58171433ORPHA1325129102610
HP:0003324HP:0003324Generalized muscle weakness0ACTA1 CL E G H582020ORPHA1362129102610
HP:0003324HP:0003324Generalized muscle weakness0ACTA1 CL E G H582020ORPHA1325129102610
HP:0003324HP:0003324Generalized muscle weakness0ACTA1 CL E G H58171433ORPHA1362129102610
HP:0003324HP:0003324Generalized muscle weakness0ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1362129102610
HP:0003324HP:0003324Generalized muscle weakness0ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1325129102610
HP:0003324HP:0003324Generalized muscle weakness0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1362129102610
HP:0003324HP:0003324Generalized muscle weakness0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1325129102610
HP:0003324HP:0003324Generalized muscle weakness0ACY1 CL E G H95137754ORPHA178177104620
HP:0003324HP:0003324Generalized muscle weakness0ACY1 CL E G H95137754ORPHA163177104620
HP:0003324HP:0003324Generalized muscle weakness0AGRN CL E G H37579098914ORPHA11579329103320
HP:0003324HP:0003324Generalized muscle weakness0AGRN CL E G H37579098914ORPHA11309329103320
HP:0003324HP:0003324Generalized muscle weakness0AIFM1 CL E G H9131238329ORPHA14508768300169
HP:0003324HP:0003324Generalized muscle weakness0AIFM1 CL E G H9131238329ORPHA14138768300169
HP:0003324HP:0003324Generalized muscle weakness0ANG CL E G H283803ORPHA191483105850
HP:0003324HP:0003324Generalized muscle weakness0ANG CL E G H283803ORPHA186483105850
HP:0003324HP:0003324Generalized muscle weakness0ANXA11 CL E G H311803ORPHA193535602572
HP:0003324HP:0003324Generalized muscle weakness0ANXA11 CL E G H311803ORPHA1150535602572
HP:0003324HP:0003324Generalized muscle weakness0APOPT1 CL E G H84334436271ORPHA112920492616003
HP:0003324HP:0003324Generalized muscle weakness0APOPT1 CL E G H84334436271ORPHA112520492616003
HP:0003324HP:0003324Generalized muscle weakness0ATXN2 CL E G H6311803ORPHA15210555601517
HP:0003324HP:0003324Generalized muscle weakness0ATXN2 CL E G H6311803ORPHA15010555601517
HP:0003324HP:0003324Generalized muscle weakness0C9orf72 CL E G H203228803ORPHA116128337614260
HP:0003324HP:0003324Generalized muscle weakness0C9orf72 CL E G H203228803ORPHA116528337614260
HP:0003324HP:0003324Generalized muscle weakness0CAPN3 CL E G H825267ORPHA110471480114240
HP:0003324HP:0003324Generalized muscle weakness0CAPN3 CL E G H825267ORPHA111421480114240
HP:0003324HP:0003324Generalized muscle weakness0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003324HP:0003324Generalized muscle weakness0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003324HP:0003324Generalized muscle weakness0CCND1 CL E G H59529073ORPHA1191582168461
HP:0003324HP:0003324Generalized muscle weakness0CCND1 CL E G H59529073ORPHA1171582168461
HP:0003324HP:0003324Generalized muscle weakness0CCNF CL E G H899803ORPHA11141591600227
HP:0003324HP:0003324Generalized muscle weakness0CCNF CL E G H899803ORPHA11081591600227
HP:0003324HP:0003324Generalized muscle weakness0CFAP410 CL E G H755803ORPHA12701260603191
HP:0003324HP:0003324Generalized muscle weakness0CFAP410 CL E G H755803ORPHA13351260603191
HP:0003324HP:0003324Generalized muscle weakness0CHAT CL E G H110398914ORPHA15111912118490
HP:0003324HP:0003324Generalized muscle weakness0CHAT CL E G H110398914ORPHA16521912118490
HP:0003324HP:0003324Generalized muscle weakness0CHCHD10 CL E G H400916803ORPHA123015559615903
HP:0003324HP:0003324Generalized muscle weakness0CHCHD10 CL E G H400916803ORPHA120515559615903
HP:0003324HP:0003324Generalized muscle weakness0CHMP2B CL E G H25978803ORPHA111024537609512
HP:0003324HP:0003324Generalized muscle weakness0CHMP2B CL E G H25978803ORPHA113024537609512
HP:0003324HP:0003324Generalized muscle weakness0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13161955100690
HP:0003324HP:0003324Generalized muscle weakness0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13571955100690
HP:0003324HP:0003324Generalized muscle weakness0CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13161955100690
HP:0003324HP:0003324Generalized muscle weakness0CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13571955100690
HP:0003324HP:0003324Generalized muscle weakness0CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM13731965100720
HP:0003324HP:0003324Generalized muscle weakness0CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM13311965100720
HP:0003324HP:0003324Generalized muscle weakness0CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13042027602023
HP:0003324HP:0003324Generalized muscle weakness0CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM13382027602023
HP:0003324HP:0003324Generalized muscle weakness0CNNM2 CL E G H5480534527ORPHA1191103607803
HP:0003324HP:0003324Generalized muscle weakness0CNNM2 CL E G H5480534527ORPHA1176103607803
HP:0003324HP:0003324Generalized muscle weakness0COL12A1 CL E G H130375840ORPHA116782188120320
HP:0003324HP:0003324Generalized muscle weakness0COL12A1 CL E G H130375840ORPHA113672188120320
HP:0003324HP:0003324Generalized muscle weakness0COL13A1 CL E G H130598914ORPHA12942190120350
HP:0003324HP:0003324Generalized muscle weakness0COL13A1 CL E G H130598914ORPHA11792190120350
HP:0003324HP:0003324Generalized muscle weakness0COL6A1 CL E G H129175840ORPHA112192211120220
HP:0003324HP:0003324Generalized muscle weakness0COL6A1 CL E G H129175840ORPHA113422211120220
HP:0003324HP:0003324Generalized muscle weakness0COL6A2 CL E G H129275840ORPHA115122212120240
HP:0003324HP:0003324Generalized muscle weakness0COL6A2 CL E G H129275840ORPHA113702212120240
HP:0003324HP:0003324Generalized muscle weakness0COL6A3 CL E G H129375840ORPHA119712213120250
HP:0003324HP:0003324Generalized muscle weakness0COL6A3 CL E G H129375840ORPHA122332213120250
HP:0003324HP:0003324Generalized muscle weakness0COLQ CL E G H829298915ORPHA14182226603033
HP:0003324HP:0003324Generalized muscle weakness0COLQ CL E G H829298915ORPHA13642226603033
HP:0003324HP:0003324Generalized muscle weakness0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14182226603033
HP:0003324HP:0003324Generalized muscle weakness0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM13642226603033
HP:0003324HP:0003324Generalized muscle weakness0DAO CL E G H1610803ORPHA1492671124050
HP:0003324HP:0003324Generalized muscle weakness0DAO CL E G H1610803ORPHA1472671124050
HP:0003324HP:0003324Generalized muscle weakness0DCTN1 CL E G H1639803ORPHA15652711601143
HP:0003324HP:0003324Generalized muscle weakness0DCTN1 CL E G H1639803ORPHA16932711601143
HP:0003324HP:0003324Generalized muscle weakness0DNAJB6 CL E G H1004934516ORPHA134614888611332
HP:0003324HP:0003324Generalized muscle weakness0DNAJB6 CL E G H1004934516ORPHA138314888611332
HP:0003324HP:0003324Generalized muscle weakness0DSE CL E G H29940615539Ehlers-Danlos syndrome, musculocontractural type 2615539C3809845OMIM117321144605942
HP:0003324HP:0003324Generalized muscle weakness0DSE CL E G H29940615539Ehlers-Danlos syndrome, musculocontractural type 2615539C3809845OMIM121821144605942
HP:0003324HP:0003324Generalized muscle weakness0EGF CL E G H195034527ORPHA12803229131530
HP:0003324HP:0003324Generalized muscle weakness0EGF CL E G H195034527ORPHA13053229131530
HP:0003324HP:0003324Generalized muscle weakness0EPHA4 CL E G H2043803ORPHA1863388602188
HP:0003324HP:0003324Generalized muscle weakness0EPHA4 CL E G H2043803ORPHA1513388602188
HP:0003324HP:0003324Generalized muscle weakness0ERBB4 CL E G H2066803ORPHA11993432600543
HP:0003324HP:0003324Generalized muscle weakness0ERBB4 CL E G H2066803ORPHA12443432600543
HP:0003324HP:0003324Generalized muscle weakness0FGF23 CL E G H8074193100Autosomal dominant hypophosphatemic rickets193100C0342642OMIM11583680605380
HP:0003324HP:0003324Generalized muscle weakness0FGF23 CL E G H8074193100Autosomal dominant hypophosphatemic rickets193100C0342642OMIM11773680605380
HP:0003324HP:0003324Generalized muscle weakness0FIG4 CL E G H9896803ORPHA164916873609390
HP:0003324HP:0003324Generalized muscle weakness0FIG4 CL E G H9896803ORPHA155816873609390
HP:0003324HP:0003324Generalized muscle weakness0FKRP CL E G H79147370980ORPHA157217997606596
HP:0003324HP:0003324Generalized muscle weakness0FKRP CL E G H79147370980ORPHA167117997606596
HP:0003324HP:0003324Generalized muscle weakness0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM167117997606596
HP:0003324HP:0003324Generalized muscle weakness0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM157217997606596
HP:0003324HP:0003324Generalized muscle weakness0FKTN CL E G H2218370980ORPHA16793622607440
HP:0003324HP:0003324Generalized muscle weakness0FKTN CL E G H2218370980ORPHA15993622607440
HP:0003324HP:0003324Generalized muscle weakness0FUS CL E G H2521803ORPHA13234010137070
HP:0003324HP:0003324Generalized muscle weakness0FUS CL E G H2521803ORPHA13394010137070
HP:0003324HP:0003324Generalized muscle weakness0FXYD2 CL E G H486154020Renal magnesium wasting154020C1835171OMIM1694026601814
HP:0003324HP:0003324Generalized muscle weakness0FXYD2 CL E G H486154020Renal magnesium wasting154020C1835171OMIM1744026601814
HP:0003324HP:0003324Generalized muscle weakness0GLE1 CL E G H2733803ORPHA13284315603371
HP:0003324HP:0003324Generalized muscle weakness0GLE1 CL E G H2733803ORPHA13014315603371
HP:0003324HP:0003324Generalized muscle weakness0HACD1 CL E G H92002020ORPHA1479639610467
HP:0003324HP:0003324Generalized muscle weakness0HACD1 CL E G H92002020ORPHA1859639610467
HP:0003324HP:0003324Generalized muscle weakness0HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM15274801600890
HP:0003324HP:0003324Generalized muscle weakness0HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM14774801600890
HP:0003324HP:0003324Generalized muscle weakness0HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM12134803143450
HP:0003324HP:0003324Generalized muscle weakness0HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM12424803143450
HP:0003324HP:0003324Generalized muscle weakness0HNRNPA1 CL E G H3178803ORPHA1595031164017
HP:0003324HP:0003324Generalized muscle weakness0HNRNPA1 CL E G H3178803ORPHA1605031164017
HP:0003324HP:0003324Generalized muscle weakness0ISPD CL E G H729920370980ORPHA154937276614631
HP:0003324HP:0003324Generalized muscle weakness0ISPD CL E G H729920370980ORPHA154537276614631
HP:0003324HP:0003324Generalized muscle weakness0ITGA7 CL E G H36792020ORPHA16286143600536
HP:0003324HP:0003324Generalized muscle weakness0ITGA7 CL E G H36792020ORPHA15236143600536
HP:0003324HP:0003324Generalized muscle weakness0KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM11996255600359
HP:0003324HP:0003324Generalized muscle weakness0KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM11896255600359
HP:0003324HP:0003324Generalized muscle weakness0KLHL41 CL E G H10324171433ORPHA119916905607701
HP:0003324HP:0003324Generalized muscle weakness0KLHL41 CL E G H10324171433ORPHA115716905607701
HP:0003324HP:0003324Generalized muscle weakness0LAMB2 CL E G H391398915ORPHA14706487150325
HP:0003324HP:0003324Generalized muscle weakness0LAMB2 CL E G H391398915ORPHA16006487150325
HP:0003324HP:0003324Generalized muscle weakness0LMOD3 CL E G H56203616165Nemaline myopathy 10616165C4015360OMIM12406649616112
HP:0003324HP:0003324Generalized muscle weakness0LMOD3 CL E G H56203616165Nemaline myopathy 10616165C4015360OMIM13086649616112
HP:0003324HP:0003324Generalized muscle weakness0MAP3K20 CL E G H517762020ORPHA17617797609479
HP:0003324HP:0003324Generalized muscle weakness0MAP3K20 CL E G H517762020ORPHA116217797609479
HP:0003324HP:0003324Generalized muscle weakness0MATR3 CL E G H9782803ORPHA12996912164015
HP:0003324HP:0003324Generalized muscle weakness0MATR3 CL E G H9782803ORPHA12496912164015
HP:0003324HP:0003324Generalized muscle weakness0MEN1 CL E G H422197279ORPHA114117010613733
HP:0003324HP:0003324Generalized muscle weakness0MEN1 CL E G H422197279ORPHA115597010613733
HP:0003324HP:0003324Generalized muscle weakness0MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM16487448300415
HP:0003324HP:0003324Generalized muscle weakness0MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM16107448300415
HP:0003324HP:0003324Generalized muscle weakness0MYH2 CL E G H4620605637Inclusion body myopathy 3605637C1854106OMIM16477572160740
HP:0003324HP:0003324Generalized muscle weakness0MYH2 CL E G H4620605637Inclusion body myopathy 3605637C1854106OMIM18017572160740
HP:0003324HP:0003324Generalized muscle weakness0MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM129607577160760
HP:0003324HP:0003324Generalized muscle weakness0MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM132927577160760
HP:0003324HP:0003324Generalized muscle weakness0MYH7 CL E G H4625608358Myosin storage myopathy608358C1842160OMIM132927577160760
HP:0003324HP:0003324Generalized muscle weakness0MYH7 CL E G H4625608358Myosin storage myopathy608358C1842160OMIM129607577160760
HP:0003324HP:0003324Generalized muscle weakness0MYL2 CL E G H46332020ORPHA14067583160781
HP:0003324HP:0003324Generalized muscle weakness0MYL2 CL E G H46332020ORPHA13557583160781
HP:0003324HP:0003324Generalized muscle weakness0MYO9A CL E G H464998914ORPHA11647608604875
HP:0003324HP:0003324Generalized muscle weakness0MYO9A CL E G H464998914ORPHA11687608604875
HP:0003324HP:0003324Generalized muscle weakness0NEB CL E G H4703171433ORPHA146747720161650
HP:0003324HP:0003324Generalized muscle weakness0NEB CL E G H4703171433ORPHA153137720161650
HP:0003324HP:0003324Generalized muscle weakness0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM146747720161650
HP:0003324HP:0003324Generalized muscle weakness0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM153137720161650
HP:0003324HP:0003324Generalized muscle weakness0NEFH CL E G H4744803ORPHA11507737162230
HP:0003324HP:0003324Generalized muscle weakness0NEFH CL E G H4744803ORPHA13007737162230
HP:0003324HP:0003324Generalized muscle weakness0NEK1 CL E G H4750803ORPHA14737744604588
HP:0003324HP:0003324Generalized muscle weakness0NEK1 CL E G H4750803ORPHA14187744604588
HP:0003324HP:0003324Generalized muscle weakness0OPTN CL E G H10133803ORPHA124017142602432
HP:0003324HP:0003324Generalized muscle weakness0OPTN CL E G H10133803ORPHA128817142602432
HP:0003324HP:0003324Generalized muscle weakness0ORAI1 CL E G H84876615883Myopathy, tubular aggregate, 2615883C4014557OMIM122825896610277
HP:0003324HP:0003324Generalized muscle weakness0ORAI1 CL E G H84876615883Myopathy, tubular aggregate, 2615883C4014557OMIM116225896610277
HP:0003324HP:0003324Generalized muscle weakness0PFN1 CL E G H5216803ORPHA1768881176610
HP:0003324HP:0003324Generalized muscle weakness0PFN1 CL E G H5216803ORPHA1708881176610
HP:0003324HP:0003324Generalized muscle weakness0PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM15139039603604
HP:0003324HP:0003324Generalized muscle weakness0PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM14319039603604
HP:0003324HP:0003324Generalized muscle weakness0PLEC CL E G H5339613723Limb-girdle muscular dystrophy, type 2Q613723C3150989OMIM133559069601282
HP:0003324HP:0003324Generalized muscle weakness0PLEC CL E G H5339613723Limb-girdle muscular dystrophy, type 2Q613723C3150989OMIM138429069601282
HP:0003324HP:0003324Generalized muscle weakness0POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM117129179174763
HP:0003324HP:0003324Generalized muscle weakness0POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM114709179174763
HP:0003324HP:0003324Generalized muscle weakness0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM166219139606822
HP:0003324HP:0003324Generalized muscle weakness0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM179719139606822
HP:0003324HP:0003324Generalized muscle weakness0POMT1 CL E G H10585370980ORPHA16099202607423
HP:0003324HP:0003324Generalized muscle weakness0POMT1 CL E G H10585370980ORPHA16869202607423
HP:0003324HP:0003324Generalized muscle weakness0POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM169119743607439
HP:0003324HP:0003324Generalized muscle weakness0POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM160419743607439
HP:0003324HP:0003324Generalized muscle weakness0PON1 CL E G H5444803ORPHA1569204168820
HP:0003324HP:0003324Generalized muscle weakness0PON2 CL E G H5445803ORPHA1489205602447
HP:0003324HP:0003324Generalized muscle weakness0PON3 CL E G H5446803ORPHA1459206602720
HP:0003324HP:0003324Generalized muscle weakness0PPARGC1A CL E G H10891803ORPHA1479237604517
HP:0003324HP:0003324Generalized muscle weakness0PRPH CL E G H5630803ORPHA1529461170710
HP:0003324HP:0003324Generalized muscle weakness0PRPH CL E G H5630803ORPHA1539461170710
HP:0003324HP:0003324Generalized muscle weakness0RANBP2 CL E G H590388619ORPHA17769848601181
HP:0003324HP:0003324Generalized muscle weakness0RANBP2 CL E G H590388619ORPHA17039848601181
HP:0003324HP:0003324Generalized muscle weakness0RYR1 CL E G H6261178145ORPHA1410110483180901
HP:0003324HP:0003324Generalized muscle weakness0RYR1 CL E G H6261178145ORPHA1460410483180901
HP:0003324HP:0003324Generalized muscle weakness0RYR1 CL E G H6261117000117000117000OMIM1460410483180901
HP:0003324HP:0003324Generalized muscle weakness0RYR1 CL E G H6261117000117000117000OMIM1410110483180901
HP:0003324HP:0003324Generalized muscle weakness0RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1460410483180901
HP:0003324HP:0003324Generalized muscle weakness0RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1410110483180901
HP:0003324HP:0003324Generalized muscle weakness0RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1460410483180901
HP:0003324HP:0003324Generalized muscle weakness0RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1410110483180901
HP:0003324HP:0003324Generalized muscle weakness0SDHA CL E G H63893208ORPHA1177810680600857
HP:0003324HP:0003324Generalized muscle weakness0SDHA CL E G H63893208ORPHA1154510680600857
HP:0003324HP:0003324Generalized muscle weakness0SDHAF1 CL E G H6440963208ORPHA14633867612848
HP:0003324HP:0003324Generalized muscle weakness0SDHAF1 CL E G H6440963208ORPHA15433867612848
HP:0003324HP:0003324Generalized muscle weakness0SDHB CL E G H63903208ORPHA192610681185470
HP:0003324HP:0003324Generalized muscle weakness0SDHB CL E G H63903208ORPHA182410681185470
HP:0003324HP:0003324Generalized muscle weakness0SDHD CL E G H63923208ORPHA144210683602690
HP:0003324HP:0003324Generalized muscle weakness0SDHD CL E G H63923208ORPHA150710683602690
HP:0003324HP:0003324Generalized muscle weakness0SELENON CL E G H571902020ORPHA145415999606210
HP:0003324HP:0003324Generalized muscle weakness0SELENON CL E G H571902020ORPHA150515999606210
HP:0003324HP:0003324Generalized muscle weakness0SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM145415999606210
HP:0003324HP:0003324Generalized muscle weakness0SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM150515999606210
HP:0003324HP:0003324Generalized muscle weakness0SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM145415999606210
HP:0003324HP:0003324Generalized muscle weakness0SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM150515999606210
HP:0003324HP:0003324Generalized muscle weakness0SLC12A1 CL E G H6557601678Bartter syndrome, type 1, antenatal601678C1866495OMIM132710910600839
HP:0003324HP:0003324Generalized muscle weakness0SLC12A1 CL E G H6557601678Bartter syndrome, type 1, antenatal601678C1866495OMIM128110910600839
HP:0003324HP:0003324Generalized muscle weakness0SLC12A3 CL E G H6559263800Familial hypokalemia-hypomagnesemia263800C0268450OMIM178510912600968
HP:0003324HP:0003324Generalized muscle weakness0SLC12A3 CL E G H6559263800Familial hypokalemia-hypomagnesemia263800C0268450OMIM186810912600968
HP:0003324HP:0003324Generalized muscle weakness0SLC18A3 CL E G H657298914ORPHA116510936600336
HP:0003324HP:0003324Generalized muscle weakness0SLC18A3 CL E G H657298914ORPHA110210936600336
HP:0003324HP:0003324Generalized muscle weakness0SLC25A1 CL E G H657698914ORPHA147010979190315
HP:0003324HP:0003324Generalized muscle weakness0SLC25A1 CL E G H657698914ORPHA149810979190315
HP:0003324HP:0003324Generalized muscle weakness0SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM125410990103220
HP:0003324HP:0003324Generalized muscle weakness0SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM126110990103220
HP:0003324HP:0003324Generalized muscle weakness0SLC5A7 CL E G H6048298914ORPHA131514025608761
HP:0003324HP:0003324Generalized muscle weakness0SLC5A7 CL E G H6048298914ORPHA125914025608761
HP:0003324HP:0003324Generalized muscle weakness0SNAP25 CL E G H661698914ORPHA112711132600322
HP:0003324HP:0003324Generalized muscle weakness0SNAP25 CL E G H661698914ORPHA114811132600322
HP:0003324HP:0003324Generalized muscle weakness0SOD1 CL E G H6647803ORPHA123211179147450
HP:0003324HP:0003324Generalized muscle weakness0SOD1 CL E G H6647803ORPHA120811179147450
HP:0003324HP:0003324Generalized muscle weakness0SQSTM1 CL E G H8878803ORPHA138311280601530
HP:0003324HP:0003324Generalized muscle weakness0SQSTM1 CL E G H8878803ORPHA147311280601530
HP:0003324HP:0003324Generalized muscle weakness0SYT2 CL E G H12783398914ORPHA112311510600104
HP:0003324HP:0003324Generalized muscle weakness0SYT2 CL E G H12783398914ORPHA17911510600104
HP:0003324HP:0003324Generalized muscle weakness0TAF15 CL E G H8148803ORPHA18611547601574
HP:0003324HP:0003324Generalized muscle weakness0TAF15 CL E G H8148803ORPHA18511547601574
HP:0003324HP:0003324Generalized muscle weakness0TARDBP CL E G H23435803ORPHA121411571605078
HP:0003324HP:0003324Generalized muscle weakness0TARDBP CL E G H23435803ORPHA122511571605078
HP:0003324HP:0003324Generalized muscle weakness0TBK1 CL E G H29110803ORPHA126911584604834
HP:0003324HP:0003324Generalized muscle weakness0TBK1 CL E G H29110803ORPHA120611584604834
HP:0003324HP:0003324Generalized muscle weakness0TK2 CL E G H7084254875ORPHA129911831188250
HP:0003324HP:0003324Generalized muscle weakness0TK2 CL E G H7084254875ORPHA123011831188250
HP:0003324HP:0003324Generalized muscle weakness0TPM2 CL E G H71692020ORPHA124212011190990
HP:0003324HP:0003324Generalized muscle weakness0TPM2 CL E G H71692020ORPHA123412011190990
HP:0003324HP:0003324Generalized muscle weakness0TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM124212011190990
HP:0003324HP:0003324Generalized muscle weakness0TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM123412011190990
HP:0003324HP:0003324Generalized muscle weakness0TPM3 CL E G H71702020ORPHA126112012191030
HP:0003324HP:0003324Generalized muscle weakness0TPM3 CL E G H7170171433ORPHA128312012191030
HP:0003324HP:0003324Generalized muscle weakness0TPM3 CL E G H7170171433ORPHA126112012191030
HP:0003324HP:0003324Generalized muscle weakness0TPM3 CL E G H71702020ORPHA128312012191030
HP:0003324HP:0003324Generalized muscle weakness0TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM126112012191030
HP:0003324HP:0003324Generalized muscle weakness0TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM128312012191030
HP:0003324HP:0003324Generalized muscle weakness0TPM3 CL E G H7170609284Nemaline myopathy 1609284C1836448OMIM128312012191030
HP:0003324HP:0003324Generalized muscle weakness0TPM3 CL E G H7170609284Nemaline myopathy 1609284C1836448OMIM126112012191030
HP:0003324HP:0003324Generalized muscle weakness0TREM2 CL E G H54209803ORPHA16417761605086
HP:0003324HP:0003324Generalized muscle weakness0TREM2 CL E G H54209803ORPHA19417761605086
HP:0003324HP:0003324Generalized muscle weakness0TTN CL E G H7273611705Myopathy, early-onset, with fatal cardiomyopathy611705C2673677OMIM11798412403188840
HP:0003324HP:0003324Generalized muscle weakness0TTN CL E G H7273611705Myopathy, early-onset, with fatal cardiomyopathy611705C2673677OMIM11902812403188840
HP:0003324HP:0003324Generalized muscle weakness0UBQLN2 CL E G H29978803ORPHA121712509300264
HP:0003324HP:0003324Generalized muscle weakness0UBQLN2 CL E G H29978803ORPHA120012509300264
HP:0003324HP:0003324Generalized muscle weakness0UNC13A CL E G H23025803ORPHA16523150609894
HP:0003324HP:0003324Generalized muscle weakness0UNC13A CL E G H23025803ORPHA16723150609894
HP:0003324HP:0003324Generalized muscle weakness0VAMP1 CL E G H684398914ORPHA18312642185880
HP:0003324HP:0003324Generalized muscle weakness0VAMP1 CL E G H684398914ORPHA19912642185880
HP:0003324HP:0003324Generalized muscle weakness0VAPB CL E G H9217803ORPHA129012649605704
HP:0003324HP:0003324Generalized muscle weakness0VAPB CL E G H9217803ORPHA127512649605704
HP:0003324HP:0003324Generalized muscle weakness0VCP CL E G H7415803ORPHA135612666601023
HP:0003324HP:0003324Generalized muscle weakness0VCP CL E G H7415329475ORPHA135612666601023
HP:0003324HP:0003324Generalized muscle weakness0VCP CL E G H7415803ORPHA139512666601023
HP:0003324HP:0003324Generalized muscle weakness0VCP CL E G H7415329475ORPHA139512666601023
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003324HP:0003324Generalized muscle weakness0ATP13A2 CL E G H23400306674ORPHA060930213610513
HP:0003324HP:0003324Generalized muscle weakness0ATP13A2 CL E G H23400306674ORPHA048730213610513
HP:0003324HP:0003324Generalized muscle weakness0HADHA CL E G H3030746Apert like polydactyly syndromeORPHA05274801600890
HP:0003324HP:0003324Generalized muscle weakness0HADHA CL E G H3030746Apert like polydactyly syndromeORPHA04774801600890
HP:0003324HP:0003324Generalized muscle weakness0HADHB CL E G H3032746Apert like polydactyly syndromeORPHA02134803143450
HP:0003324HP:0003324Generalized muscle weakness0HADHB CL E G H3032746Apert like polydactyly syndromeORPHA02424803143450
HP:0003324HP:0003324Generalized muscle weakness0PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA06518967606097
HP:0003324HP:0003324Generalized muscle weakness0PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA07518967606097
HP:0003324HP:0003324Generalized muscle weakness0PLEC CL E G H5339254361ORPHA033559069601282
HP:0003324HP:0003324Generalized muscle weakness0PLEC CL E G H5339254361ORPHA038429069601282
HP:0003324HP:0003324Generalized muscle weakness0PNKD CL E G H2595398810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA03819153609023
HP:0003324HP:0003324Generalized muscle weakness0PNKD CL E G H2595398810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA03339153609023
HP:0003324HP:0003324Generalized muscle weakness0PRRT2 CL E G H11247698810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA059730500614386
HP:0003324HP:0003324Generalized muscle weakness0PRRT2 CL E G H11247698810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA065930500614386


Genes (117) :AARS2 ABCB6 ACAD9 ACADL ACTA1 ACY1 AGRN AIFM1 ANG ANXA11 APOPT1 ATP13A2 ATXN2 C9ORF72 C9orf72 CAPN3 CAVIN1 CCND1 CCNF CFAP410 CHAT CHCHD10 CHMP2B CHRNA1 CHRND CLCNKB CNNM2 COA8 COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 COLQ CRPPA DAO DCTN1 DNAJB6 DSE EGF EPHA4 ERBB4 FGF23 FIG4 FKRP FKTN FUS FXYD2 GLE1 HACD1 HADHA HADHB HNRNPA1 ISPD ITGA7 KCNJ1 KLHL41 LAMB2 LMOD3 MAP3K20 MATR3 MEN1 MTM1 MYH2 MYH7 MYL2 MYO9A NEB NEFH NEK1 OPTN ORAI1 PFN1 PIGN PLA2G6 PLEC PNKD POLG POMGNT1 POMT1 POMT2 PON1 PON2 PON3 PPARGC1A PRPH PRRT2 RANBP2 RYR1 SDHA SDHAF1 SDHB SDHD SELENON SLC12A1 SLC12A3 SLC18A3 SLC25A1 SLC25A4 SLC5A7 SNAP25 SOD1 SQSTM1 SYT2 TAF15 TARDBP TBK1 TK2 TPM2 TPM3 TREM2 TTN UBQLN2 UNC13A VAMP1 VAPB VCP

Diseases (62) :614096 609153 99901 99900 2020 171433 255310 161800 137754 98914 238329 803 306674 267 613327 29073 608930 601462 616321 607364 34527 436271 75840 98915 603034 370980 34516 615539 193100 606612 154020 746 609015 241200 616165 97279 310400 605637 608358 256030 615883 280633 256600 254361 613723 98810 613662 253280 613156 88619 178145 117000 255320 3208 602771 601678 263800 609283 254875 609284 611705 329475
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.