Human Phenotype Ontology 
Grandparent Node:
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Muscle weakness (HP:0001324)help
Parent Node:
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Proximal muscle weakness (HP:0003701)help
..Starting node
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Gowers sign (HP:0003391)help
Term ID: 3391
Name: Gowers sign
Synonym: Gower sign; Positive Gower sign; Positive Gowers sign
Definition: A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.
Comments:
Reference: HP:0003391
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandLate-onset proximal muscle weakness (HP:0003694) help
..expandProgressive proximal muscle weakness (HP:0009073) help
..expandProximal muscle weakness in lower limbs (HP:0008994) help
..expandProximal muscle weakness in upper limbs (HP:0008997) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003391HP:0003391Gowers sign0ACTA1 CL E G H5897240ORPHA1362129102610
HP:0003391HP:0003391Gowers sign0ACTA1 CL E G H5897240ORPHA1325129102610
HP:0003391HP:0003391Gowers sign0ALG2 CL E G H85365616228Myasthenic syndrome, congenital, 14616228C4015597OMIM124123159607905
HP:0003391HP:0003391Gowers sign0ALG2 CL E G H85365616228Myasthenic syndrome, congenital, 14616228C4015597OMIM119323159607905
HP:0003391HP:0003391Gowers sign0ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1593735613468
HP:0003391HP:0003391Gowers sign0ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1420735613468
HP:0003391HP:0003391Gowers sign0BICD2 CL E G H23299363454ORPHA150617208609797
HP:0003391HP:0003391Gowers sign0BICD2 CL E G H23299363454ORPHA144517208609797
HP:0003391HP:0003391Gowers sign0BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM150617208609797
HP:0003391HP:0003391Gowers sign0BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM144517208609797
HP:0003391HP:0003391Gowers sign0BIN1 CL E G H274169186ORPHA14871052601248
HP:0003391HP:0003391Gowers sign0BIN1 CL E G H274169186ORPHA14311052601248
HP:0003391HP:0003391Gowers sign0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14871052601248
HP:0003391HP:0003391Gowers sign0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14311052601248
HP:0003391HP:0003391Gowers sign0CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11391875601443
HP:0003391HP:0003391Gowers sign0CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11281875601443
HP:0003391HP:0003391Gowers sign0CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM13821938612395
HP:0003391HP:0003391Gowers sign0CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM13351938612395
HP:0003391HP:0003391Gowers sign0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13571955100690
HP:0003391HP:0003391Gowers sign0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13161955100690
HP:0003391HP:0003391Gowers sign0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM16731966100725
HP:0003391HP:0003391Gowers sign0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM15991966100725
HP:0003391HP:0003391Gowers sign0DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM14672666128239
HP:0003391HP:0003391Gowers sign0DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM13762666128239
HP:0003391HP:0003391Gowers sign0DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM163952928300377
HP:0003391HP:0003391Gowers sign0DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM156012928300377
HP:0003391HP:0003391Gowers sign0DNA2 CL E G H1763352470ORPHA12902939601810
HP:0003391HP:0003391Gowers sign0DNA2 CL E G H1763352470ORPHA12232939601810
HP:0003391HP:0003391Gowers sign0DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM12902939601810
HP:0003391HP:0003391Gowers sign0DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM12232939601810
HP:0003391HP:0003391Gowers sign0DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM138314888611332
HP:0003391HP:0003391Gowers sign0DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM134614888611332
HP:0003391HP:0003391Gowers sign0DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM175026594610285
HP:0003391HP:0003391Gowers sign0DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM164526594610285
HP:0003391HP:0003391Gowers sign0DPM3 CL E G H54344612937Congenital disorder of glycosylation type 1O612937C2752007OMIM1593007605951
HP:0003391HP:0003391Gowers sign0DPM3 CL E G H54344612937Congenital disorder of glycosylation type 1O612937C2752007OMIM1503007605951
HP:0003391HP:0003391Gowers sign0FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM16793622607440
HP:0003391HP:0003391Gowers sign0FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM15993622607440
HP:0003391HP:0003391Gowers sign0GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14064241138292
HP:0003391HP:0003391Gowers sign0GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM13744241138292
HP:0003391HP:0003391Gowers sign0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14064241138292
HP:0003391HP:0003391Gowers sign0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM13744241138292
HP:0003391HP:0003391Gowers sign0INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM115333882607875
HP:0003391HP:0003391Gowers sign0INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM114533882607875
HP:0003391HP:0003391Gowers sign0LAMA2 CL E G H3908618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23618138OMIM127396482156225
HP:0003391HP:0003391Gowers sign0LAMA2 CL E G H3908618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23618138OMIM123276482156225
HP:0003391HP:0003391Gowers sign0MSTO1 CL E G H55154502423ORPHA16729678617619
HP:0003391HP:0003391Gowers sign0MSTO1 CL E G H55154502423ORPHA15929678617619
HP:0003391HP:0003391Gowers sign0MUSK CL E G H4593616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency616325C4225368OMIM14507525601296
HP:0003391HP:0003391Gowers sign0MUSK CL E G H4593616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency616325C4225368OMIM13837525601296
HP:0003391HP:0003391Gowers sign0MYPN CL E G H84665617336Nemaline myopathy 11, autosomal recessive617336C4479186OMIM1103323246608517
HP:0003391HP:0003391Gowers sign0MYPN CL E G H84665617336Nemaline myopathy 11, autosomal recessive617336C4479186OMIM188723246608517
HP:0003391HP:0003391Gowers sign0ORAI1 CL E G H84876612782Immune dysfunction with T-cell inactivation due to calcium entry defect 1612782C2748568OMIM122825896610277
HP:0003391HP:0003391Gowers sign0ORAI1 CL E G H84876612782Immune dysfunction with T-cell inactivation due to calcium entry defect 1612782C2748568OMIM116225896610277
HP:0003391HP:0003391Gowers sign0PLEC CL E G H5339254361ORPHA138429069601282
HP:0003391HP:0003391Gowers sign0PLEC CL E G H5339254361ORPHA133559069601282
HP:0003391HP:0003391Gowers sign0PLEC CL E G H5339613723Limb-girdle muscular dystrophy, type 2Q613723C3150989OMIM138429069601282
HP:0003391HP:0003391Gowers sign0PLEC CL E G H5339613723Limb-girdle muscular dystrophy, type 2Q613723C3150989OMIM133559069601282
HP:0003391HP:0003391Gowers sign0PNPLA2 CL E G H5710498908ORPHA139130802609059
HP:0003391HP:0003391Gowers sign0PNPLA2 CL E G H5710498908ORPHA133430802609059
HP:0003391HP:0003391Gowers sign0PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM139130802609059
HP:0003391HP:0003391Gowers sign0PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM133430802609059
HP:0003391HP:0003391Gowers sign0PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM16828900612123
HP:0003391HP:0003391Gowers sign0PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM15628900612123
HP:0003391HP:0003391Gowers sign0POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM179719139606822
HP:0003391HP:0003391Gowers sign0POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM166219139606822
HP:0003391HP:0003391Gowers sign0POMGNT2 CL E G H84892618135MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8618135CN253928OMIM132225902614828
HP:0003391HP:0003391Gowers sign0POMGNT2 CL E G H84892618135MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8618135CN253928OMIM126725902614828
HP:0003391HP:0003391Gowers sign0POMK CL E G H84197616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12616094C4015184OMIM122426267615247
HP:0003391HP:0003391Gowers sign0POMK CL E G H84197616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12616094C4015184OMIM119226267615247
HP:0003391HP:0003391Gowers sign0POMT1 CL E G H1058586812ORPHA16869202607423
HP:0003391HP:0003391Gowers sign0POMT1 CL E G H1058586812ORPHA16099202607423
HP:0003391HP:0003391Gowers sign0PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM131826162617220
HP:0003391HP:0003391Gowers sign0PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM122926162617220
HP:0003391HP:0003391Gowers sign0RAPSN CL E G H5913616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency616326C4225367OMIM13789863601592
HP:0003391HP:0003391Gowers sign0RAPSN CL E G H5913616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency616326C4225367OMIM13229863601592
HP:0003391HP:0003391Gowers sign0RYR1 CL E G H6261169186ORPHA1460410483180901
HP:0003391HP:0003391Gowers sign0RYR1 CL E G H6261169186ORPHA1410110483180901
HP:0003391HP:0003391Gowers sign0SGCA CL E G H644262COG4 related congenital disorder of glycosylation, autosomal dominantORPHA147410805600119
HP:0003391HP:0003391Gowers sign0SGCA CL E G H644262COG4 related congenital disorder of glycosylation, autosomal dominantORPHA142210805600119
HP:0003391HP:0003391Gowers sign0SGCB CL E G H6443119ORPHA137410806600900
HP:0003391HP:0003391Gowers sign0SGCB CL E G H6443119ORPHA132710806600900
HP:0003391HP:0003391Gowers sign0SGCD CL E G H6444601287Limb-girdle muscular dystrophy, type 2F601287C1832525OMIM154610807601411
HP:0003391HP:0003391Gowers sign0SGCD CL E G H6444601287Limb-girdle muscular dystrophy, type 2F601287C1832525OMIM151010807601411
HP:0003391HP:0003391Gowers sign0SGCG CL E G H6445253700Severe autosomal recessive muscular dystrophy of childhood - North African type253700C0410173OMIM145210809608896
HP:0003391HP:0003391Gowers sign0SGCG CL E G H6445253700Severe autosomal recessive muscular dystrophy of childhood - North African type253700C0410173OMIM140910809608896
HP:0003391HP:0003391Gowers sign0SPEG CL E G H10290169186ORPHA163716901615950
HP:0003391HP:0003391Gowers sign0SPEG CL E G H10290169186ORPHA126516901615950
HP:0003391HP:0003391Gowers sign0TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM129911831188250
HP:0003391HP:0003391Gowers sign0TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM123011831188250
HP:0003391HP:0003391Gowers sign0TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM124212011190990
HP:0003391HP:0003391Gowers sign0TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM123412011190990
HP:0003391HP:0003391Gowers sign0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM167325751614138
HP:0003391HP:0003391Gowers sign0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM157325751614138
HP:0003391HP:0003391Gowers sign0TRIM32 CL E G H22954254110Sarcotubular myopathy254110C0270968OMIM148216380602290
HP:0003391HP:0003391Gowers sign0TRIM32 CL E G H22954254110Sarcotubular myopathy254110C0270968OMIM141016380602290
HP:0003391HP:0003391Gowers sign0TRPV4 CL E G H59341181405Scapuloperoneal spinal muscular atrophy181405C0751335OMIM178118083605427
HP:0003391HP:0003391Gowers sign0TRPV4 CL E G H59341181405Scapuloperoneal spinal muscular atrophy181405C0751335OMIM170318083605427
HP:0003391HP:0003391Gowers sign0TTN CL E G H7273169186ORPHA11902812403188840
HP:0003391HP:0003391Gowers sign0TTN CL E G H7273169186ORPHA11798412403188840
HP:0003391HP:0003391Gowers sign0VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM123022082300913
HP:0003391HP:0003391Gowers sign0VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM122322082300913
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003391HP:0003391Gowers sign0ACTA1 CL E G H5897244ORPHA0362129102610
HP:0003391HP:0003391Gowers sign0ACTA1 CL E G H5897244ORPHA0325129102610
HP:0003391HP:0003391Gowers sign0ALG14 CL E G H199857353327ORPHA09728287612866
HP:0003391HP:0003391Gowers sign0ALG14 CL E G H199857353327ORPHA07628287612866
HP:0003391HP:0003391Gowers sign0ALG2 CL E G H85365353327ORPHA024123159607905
HP:0003391HP:0003391Gowers sign0ALG2 CL E G H85365353327ORPHA019323159607905
HP:0003391HP:0003391Gowers sign0DPAGT1 CL E G H1798353327ORPHA02332995191350
HP:0003391HP:0003391Gowers sign0DPAGT1 CL E G H1798353327ORPHA01992995191350
HP:0003391HP:0003391Gowers sign0GATM CL E G H2628612718Arginine:glycine amidinotransferase deficiency612718C2675179OMIM03224175602360
HP:0003391HP:0003391Gowers sign0GATM CL E G H2628612718Arginine:glycine amidinotransferase deficiency612718C2675179OMIM02804175602360
HP:0003391HP:0003391Gowers sign0GFPT1 CL E G H2673353327ORPHA04064241138292
HP:0003391HP:0003391Gowers sign0GFPT1 CL E G H2673353327ORPHA03744241138292
HP:0003391HP:0003391Gowers sign0GMPPB CL E G H29925353327ORPHA023422932615320
HP:0003391HP:0003391Gowers sign0GMPPB CL E G H29925353327ORPHA020322932615320
HP:0003391HP:0003391Gowers sign0MYPN CL E G H84665171881ORPHA0103323246608517
HP:0003391HP:0003391Gowers sign0MYPN CL E G H84665171881ORPHA088723246608517
HP:0003391HP:0003391Gowers sign0NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM04897739162280
HP:0003391HP:0003391Gowers sign0NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM04387739162280
HP:0003391HP:0003391Gowers sign0SELENON CL E G H5719097244ORPHA050515999606210
HP:0003391HP:0003391Gowers sign0SELENON CL E G H5719097244ORPHA045415999606210
HP:0003391HP:0003391Gowers sign0SGCG CL E G H6445353Kozlowski Warren Fisher syndromeORPHA045210809608896
HP:0003391HP:0003391Gowers sign0SGCG CL E G H6445353Kozlowski Warren Fisher syndromeORPHA040910809608896
HP:0003391HP:0003391Gowers sign0TPM2 CL E G H7169171881ORPHA024212011190990
HP:0003391HP:0003391Gowers sign0TPM2 CL E G H7169171881ORPHA023412011190990
HP:0003391HP:0003391Gowers sign0TPM3 CL E G H7170171881ORPHA028312012191030
HP:0003391HP:0003391Gowers sign0TPM3 CL E G H7170171881ORPHA026112012191030


Genes (52) :ACTA1 ALG14 ALG2 ASAH1 BICD2 BIN1 CFL2 CHKB CHRNA1 CHRNE DAG1 DMD DNA2 DNAJB6 DOK7 DPAGT1 DPM3 FKTN GATM GFPT1 GMPPB INPP5K LAMA2 MSTO1 MUSK MYPN NEFL ORAI1 PLEC PNPLA2 PNPLA8 POMGNT1 POMGNT2 POMK POMT1 PYROXD1 RAPSN RYR1 SELENON SGCA SGCB SGCD SGCG SPEG TK2 TPM2 TPM3 TRAPPC11 TRIM32 TRPV4 TTN VMA21

Diseases (53) :97240 97244 353327 616228 159950 363454 615290 169186 255200 610687 602541 608930 608931 613818 310200 352470 615156 603511 254300 612937 611588 612718 610542 617404 618138 502423 616325 171881 617336 617882 612782 254361 613723 98908 610717 251950 613157 618135 616094 86812 617258 616326 62 119 601287 353 253700 609560 609285 615356 254110 181405 310440
 

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