Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the musculature of the limbs (HP:0009127)help
Grandparent Node:
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Muscle weakness (HP:0001324)help
Parent Node:
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Abnormality of the foot musculature (HP:0001436)help
Parent Node:
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Limb muscle weakness (HP:0003690)help
..Starting node
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Foot dorsiflexor weakness (HP:0009027)help
Term ID: 9027
Name: Foot dorsiflexor weakness
Synonym: Foot drop; Foot extensor weakness; Footdrop; Inability to heel walk; Inability to walk on heels
Definition: Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.
Comments:
Reference: HP:0009027
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandLower limb muscle weakness (HP:0007340) help
..expandProximal muscle weakness in lower limbs (HP:0008994) help
..expandUpper limb muscle weakness (HP:0003484) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009027HP:0009027Foot dorsiflexor weakness0AARS1 CL E G H1620OMIM:613287Charcot-Marie-Tooth disease, axonal, type 2N.
HP:0009027HP:0009027Foot dorsiflexor weakness0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional96
HP:0009027HP:0009027Foot dorsiflexor weakness0ACTA1 CL E G H58129OMIM:616852Myopathy, scapulohumeroperoneal96
HP:0009027HP:0009027Foot dorsiflexor weakness0ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent96
HP:0009027HP:0009027Foot dorsiflexor weakness0ACTN2 CL E G H88164OMIM:618655MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6307
HP:0009027HP:0009027Foot dorsiflexor weakness0ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040282 - Frequent
HP:0009027HP:0009027Foot dorsiflexor weakness0ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessiveHP:0040283 - Occasional89
HP:0009027HP:0009027Foot dorsiflexor weakness0ATL1 CL E G H5106211231ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent71
HP:0009027HP:0009027Foot dorsiflexor weakness0ATL3 CL E G H2592324526ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent5
HP:0009027HP:0009027Foot dorsiflexor weakness0ATP1A1 CL E G H476799OMIM:618036Charcot-Marie-Tooth disease, axonal, type 2DD.4
HP:0009027HP:0009027Foot dorsiflexor weakness0BSCL2 CL E G H2658015832ORPHA:100998Autosomal dominant spastic paraplegia type 17HP:0040282 - Frequent105
HP:0009027HP:0009027Foot dorsiflexor weakness0CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0009027HP:0009027Foot dorsiflexor weakness0CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent35
HP:0009027HP:0009027Foot dorsiflexor weakness0COA7 CL E G H6526025716OMIM:618387Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3.
HP:0009027HP:0009027Foot dorsiflexor weakness0COL12A1 CL E G H13032188ORPHA:610Bethlem myopathyHP:0040283 - Occasional65
HP:0009027HP:0009027Foot dorsiflexor weakness0COL6A1 CL E G H12912211ORPHA:610Bethlem myopathyHP:0040283 - Occasional442
HP:0009027HP:0009027Foot dorsiflexor weakness0COL6A2 CL E G H12922212ORPHA:610Bethlem myopathyHP:0040283 - Occasional478
HP:0009027HP:0009027Foot dorsiflexor weakness0COL6A3 CL E G H12932213ORPHA:610Bethlem myopathyHP:0040283 - Occasional702
HP:0009027HP:0009027Foot dorsiflexor weakness0COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0009027HP:0009027Foot dorsiflexor weakness0COX6A1 CL E G H13372277OMIM:616039Charcot-Marie-Tooth disease, recessive intermediate D.4
HP:0009027HP:0009027Foot dorsiflexor weakness0CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathyHP:0040282 - Frequent46
HP:0009027HP:0009027Foot dorsiflexor weakness0CRYAB CL E G H14102389OMIM:608810Myopathy, myofibrillar, 2, mfm2.46
HP:0009027HP:0009027Foot dorsiflexor weakness0DES CL E G H16742770OMIM:181400Scapuloperoneal syndrome, neurogenic, Kaeser type.263
HP:0009027HP:0009027Foot dorsiflexor weakness0DNAJB2 CL E G H33005228OMIM:614881Spinal muscular atrophy, distal, autosomal recessive, 5.30
HP:0009027HP:0009027Foot dorsiflexor weakness0DYSF CL E G H82913097ORPHA:45448Miyoshi myopathyHP:0040283 - Occasional600
HP:0009027HP:0009027Foot dorsiflexor weakness0EGR2 CL E G H19593239OMIM:607678Charcot-Marie-Tooth disease, demyelinating, type 1D.58
HP:0009027HP:0009027Foot dorsiflexor weakness0EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas.58
HP:0009027HP:0009027Foot dorsiflexor weakness0FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 35HP:0040281 - Very frequent76
HP:0009027HP:0009027Foot dorsiflexor weakness0FHL1 CL E G H22733702OMIM:300695Scapuloperoneal myopathy, X-linked dominant.68
HP:0009027HP:0009027Foot dorsiflexor weakness0FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvementHP:0040282 - Frequent197
HP:0009027HP:0009027Foot dorsiflexor weakness0GBF1 CL E G H87294181OMIM:606483Charcot-Marie-Tooth disease, dominant intermediate A.
HP:0009027HP:0009027Foot dorsiflexor weakness0GDAP1 CL E G H5433215968OMIM:608340Charcot-Marie-Tooth disease, recessive intermediate A.108
HP:0009027HP:0009027Foot dorsiflexor weakness0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040283 - Occasional
HP:0009027HP:0009027Foot dorsiflexor weakness0GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxiaHP:0040283 - Occasional107
HP:0009027HP:0009027Foot dorsiflexor weakness0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0009027HP:0009027Foot dorsiflexor weakness0GNE CL E G H1002023657ORPHA:602GNE myopathyHP:0040281 - Very frequent173
HP:0009027HP:0009027Foot dorsiflexor weakness0GYG1 CL E G H29924699ORPHA:263297Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiencyHP:0040282 - Frequent18
HP:0009027HP:0009027Foot dorsiflexor weakness0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0009027HP:0009027Foot dorsiflexor weakness0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040283 - Occasional12
HP:0009027HP:0009027Foot dorsiflexor weakness0HINT1 CL E G H30944912OMIM:137200Neuromyotonia and axonal neuropathy, autosomal recessive.12
HP:0009027HP:0009027Foot dorsiflexor weakness0HNRNPA1 CL E G H31785031OMIM:615424Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 331
HP:0009027HP:0009027Foot dorsiflexor weakness0HSPB1 CL E G H33155246OMIM:606595Charcot-Marie-Tooth disease, axonal, type 2F.47
HP:0009027HP:0009027Foot dorsiflexor weakness0IGHMBP2 CL E G H35085542OMIM:616155Charcot-Marie-Tooth disease, axonal, type 2S.209
HP:0009027HP:0009027Foot dorsiflexor weakness0INF2 CL E G H6442323791OMIM:614455Charcot-Marie-Tooth disease, dominant intermediate E.135
HP:0009027HP:0009027Foot dorsiflexor weakness0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional127
HP:0009027HP:0009027Foot dorsiflexor weakness0JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0009027HP:0009027Foot dorsiflexor weakness0KARS1 CL E G H37356215OMIM:613641Charcot-marie-tooth disease, recessive intermediate B.
HP:0009027HP:0009027Foot dorsiflexor weakness0KIF1A CL E G H547888OMIM:614213Neuropathy, hereditary sensory, type IIC276
HP:0009027HP:0009027Foot dorsiflexor weakness0KIF1B CL E G H2309516636OMIM:118210Charcot-Marie-Tooth disease, axonal, type 2A1.202
HP:0009027HP:0009027Foot dorsiflexor weakness0KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent13
HP:0009027HP:0009027Foot dorsiflexor weakness0KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0009027HP:0009027Foot dorsiflexor weakness0LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0009027HP:0009027Foot dorsiflexor weakness0LDB3 CL E G H1115515710ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs typeHP:0040284 - Very rare286
HP:0009027HP:0009027Foot dorsiflexor weakness0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent1
HP:0009027HP:0009027Foot dorsiflexor weakness0LMNA CL E G H40006636OMIM:605588Charcot-Marie-Tooth disease, axonal, type 2B1.645
HP:0009027HP:0009027Foot dorsiflexor weakness0LMNA CL E G H40006636OMIM:181350Emery-Dreifuss muscular dystrophy 2, autosomal dominant645
HP:0009027HP:0009027Foot dorsiflexor weakness0LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent11
HP:0009027HP:0009027Foot dorsiflexor weakness0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1.
HP:0009027HP:0009027Foot dorsiflexor weakness0LRSAM1 CL E G H9067825135OMIM:614436Charcot-Marie-Tooth disease, axonal, type 2P.102
HP:0009027HP:0009027Foot dorsiflexor weakness0LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome.239
HP:0009027HP:0009027Foot dorsiflexor weakness0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0009027HP:0009027Foot dorsiflexor weakness0MARS1 CL E G H41416898OMIM:616280Charcot-Marie-Tooth disease, axonal, type 2U.
HP:0009027HP:0009027Foot dorsiflexor weakness0MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development.3
HP:0009027HP:0009027Foot dorsiflexor weakness0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040281 - Very frequent203
HP:0009027HP:0009027Foot dorsiflexor weakness0MFN2 CL E G H992716877OMIM:617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B.203
HP:0009027HP:0009027Foot dorsiflexor weakness0MFN2 CL E G H992716877OMIM:609260Charcot-marie-tooth disease, axonal, type 2A2A.203
HP:0009027HP:0009027Foot dorsiflexor weakness0MME CL E G H43117154OMIM:617017Charcot-Marie-Tooth disease, axonal, type 2T.18
HP:0009027HP:0009027Foot dorsiflexor weakness0MME CL E G H43117154ORPHA:497764Spinocerebellar ataxia type 43HP:0040282 - Frequent18
HP:0009027HP:0009027Foot dorsiflexor weakness0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040283 - Occasional8
HP:0009027HP:0009027Foot dorsiflexor weakness0MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z.8
HP:0009027HP:0009027Foot dorsiflexor weakness0MPV17 CL E G H43587224OMIM:618400Charcot-Marie-Tooth disease, axonal, type 2EE.56
HP:0009027HP:0009027Foot dorsiflexor weakness0MPZ CL E G H43597225OMIM:118200Charcot-Marie-Tooth disease, demyelinating, type 1B.134
HP:0009027HP:0009027Foot dorsiflexor weakness0MPZ CL E G H43597225OMIM:607736Charcot-Marie-Tooth disease, type 2J134
HP:0009027HP:0009027Foot dorsiflexor weakness0MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas.134
HP:0009027HP:0009027Foot dorsiflexor weakness0MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55HP:0040282 - Frequent
HP:0009027HP:0009027Foot dorsiflexor weakness0MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive
HP:0009027HP:0009027Foot dorsiflexor weakness0MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathyHP:0040281 - Very frequent1269
HP:0009027HP:0009027Foot dorsiflexor weakness0MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040281 - Very frequent1269
HP:0009027HP:0009027Foot dorsiflexor weakness0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional131
HP:0009027HP:0009027Foot dorsiflexor weakness0MYOT CL E G H949912399ORPHA:266Autosomal dominant limb-girdle muscular dystrophy type 1AHP:0040282 - Frequent75
HP:0009027HP:0009027Foot dorsiflexor weakness0NEB CL E G H47037720ORPHA:399103Distal nebulin myopathyHP:0040282 - Frequent745
HP:0009027HP:0009027Foot dorsiflexor weakness0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0009027HP:0009027Foot dorsiflexor weakness0NEB CL E G H47037720ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent745
HP:0009027HP:0009027Foot dorsiflexor weakness0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040282 - Frequent118
HP:0009027HP:0009027Foot dorsiflexor weakness0NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E.118
HP:0009027HP:0009027Foot dorsiflexor weakness0NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2HP:0040283 - Occasional220
HP:0009027HP:0009027Foot dorsiflexor weakness0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040283 - Occasional
HP:0009027HP:0009027Foot dorsiflexor weakness0ORAI1 CL E G H8487625896OMIM:615883Myopathy, tubular aggregate, 2.19
HP:0009027HP:0009027Foot dorsiflexor weakness0PMP22 CL E G H53769118OMIM:118300Charcot-Marie-Tooth disease and deafness.79
HP:0009027HP:0009027Foot dorsiflexor weakness0PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040282 - Frequent79
HP:0009027HP:0009027Foot dorsiflexor weakness0PMP22 CL E G H53769118OMIM:118220Charcot-Marie-Tooth disease, demyelinating, type 1A.79
HP:0009027HP:0009027Foot dorsiflexor weakness0PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas.79
HP:0009027HP:0009027Foot dorsiflexor weakness0PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathyHP:0040283 - Occasional65
HP:0009027HP:0009027Foot dorsiflexor weakness0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent464
HP:0009027HP:0009027Foot dorsiflexor weakness0PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas.170
HP:0009027HP:0009027Foot dorsiflexor weakness0RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B.50
HP:0009027HP:0009027Foot dorsiflexor weakness0RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndromeHP:0040282 - Frequent150
HP:0009027HP:0009027Foot dorsiflexor weakness0REEP1 CL E G H6505525786OMIM:62001187
HP:0009027HP:0009027Foot dorsiflexor weakness0RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent125
HP:0009027HP:0009027Foot dorsiflexor weakness0SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-SaguenayHP:0040283 - Occasional309
HP:0009027HP:0009027Foot dorsiflexor weakness0SBF2 CL E G H818462135OMIM:604563Charcot-Marie-Tooth disease, type 4B2.180
HP:0009027HP:0009027Foot dorsiflexor weakness0SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defectHP:0040282 - Frequent40
HP:0009027HP:0009027Foot dorsiflexor weakness0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional144
HP:0009027HP:0009027Foot dorsiflexor weakness0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040282 - Frequent493
HP:0009027HP:0009027Foot dorsiflexor weakness0SIGMAR1 CL E G H102808157OMIM:605726Spinal muscular atrophy, distal, autosomal recessive, 2.6
HP:0009027HP:0009027Foot dorsiflexor weakness0SLC12A6 CL E G H999010914OMIM:620068163
HP:0009027HP:0009027Foot dorsiflexor weakness0SLC25A21 CL E G H8987414411OMIM:618811MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0009027HP:0009027Foot dorsiflexor weakness0SMCHD1 CL E G H2334729090OMIM:158901FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2174
HP:0009027HP:0009027Foot dorsiflexor weakness0SPG11 CL E G H8020811226OMIM:616668Charcot-Marie-Tooth disease, axonal, type 2X.287
HP:0009027HP:0009027Foot dorsiflexor weakness0SPTLC1 CL E G H1055811277ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent54
HP:0009027HP:0009027Foot dorsiflexor weakness0SPTLC2 CL E G H951711278ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent149
HP:0009027HP:0009027Foot dorsiflexor weakness0SQSTM1 CL E G H887811280ORPHA:603Distal myopathy, Welander typeHP:0040281 - Very frequent62
HP:0009027HP:0009027Foot dorsiflexor weakness0SQSTM1 CL E G H887811280OMIM:617158MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV62
HP:0009027HP:0009027Foot dorsiflexor weakness0SYT2 CL E G H12783311510OMIM:616040Myasthenic syndrome, congenital, 7, presynaptic4
HP:0009027HP:0009027Foot dorsiflexor weakness0TBCE CL E G H690511582ORPHA:496756Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndromeHP:0040282 - Frequent52
HP:0009027HP:0009027Foot dorsiflexor weakness0TBCE CL E G H690511582OMIM:617207ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO52
HP:0009027HP:0009027Foot dorsiflexor weakness0TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G.78
HP:0009027HP:0009027Foot dorsiflexor weakness0TIA1 CL E G H707211802ORPHA:603Distal myopathy, Welander typeHP:0040281 - Very frequent5
HP:0009027HP:0009027Foot dorsiflexor weakness0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional54
HP:0009027HP:0009027Foot dorsiflexor weakness0TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent54
HP:0009027HP:0009027Foot dorsiflexor weakness0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional108
HP:0009027HP:0009027Foot dorsiflexor weakness0TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC.214
HP:0009027HP:0009027Foot dorsiflexor weakness0TTN CL E G H727312403ORPHA:178464Hereditary myopathy with early respiratory failureHP:0040282 - Frequent7128
HP:0009027HP:0009027Foot dorsiflexor weakness0TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0009027HP:0009027Foot dorsiflexor weakness0TTN CL E G H727312403ORPHA:609Tibial muscular dystrophyHP:0040282 - Frequent7128
HP:0009027HP:0009027Foot dorsiflexor weakness0TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent138
HP:0009027HP:0009027Foot dorsiflexor weakness0VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutationHP:0040282 - Frequent63
HP:0009027HP:0009027Foot dorsiflexor weakness0VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040282 - Frequent63
HP:0009027HP:0009027Foot dorsiflexor weakness0VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO


Genes (103) :AARS1 ACTA1 ACTN2 ADSS1 ALDH18A1 ATL1 ATL3 ATP1A1 BSCL2 CADM3 CFL2 COA7 COL12A1 COL6A1 COL6A2 COL6A3 COX20 COX6A1 CRYAB DES DNAJB2 DYSF EGR2 FA2H FHL1 FLNC GBF1 GDAP1 GIPC1 GJB1 GNB2 GNE GYG1 HACD1 HINT1 HNRNPA1 HSPB1 IGHMBP2 INF2 ITGA7 JAG1 KARS1 KIF1A KIF1B KLHL41 KY LBR LDB3 LIG3 LMNA LMOD3 LRP12 LRSAM1 LYST MAP3K20 MARS1 MCM3AP MFN2 MME MORC2 MPV17 MPZ MTRFR MYH7 MYL2 MYOT NEB NEFL NF2 NOTCH2NLC ORAI1 PMP22 PNPLA2 POLG PRX RAB7A RAI1 REEP1 RRM2B SACS SBF2 SCO2 SELENON SH3TC2 SIGMAR1 SLC12A6 SLC25A21 SMCHD1 SPG11 SPTLC1 SPTLC2 SQSTM1 SYT2 TBCE TCAP TIA1 TPM2 TPM3 TRPV4 TTN TYMP VCP VWA1

Diseases (103) :OMIM:613287 ORPHA:2020 OMIM:616852 ORPHA:171436 OMIM:618655 ORPHA:482601 OMIM:616586 ORPHA:36386 OMIM:618036 ORPHA:100998 OMIM:619519 OMIM:618387 ORPHA:610 OMIM:619054 OMIM:616039 ORPHA:399058 OMIM:608810 OMIM:181400 OMIM:614881 ORPHA:45448 OMIM:607678 OMIM:145900 ORPHA:171629 OMIM:300695 ORPHA:63273 OMIM:606483 OMIM:608340 ORPHA:98897 ORPHA:1175 OMIM:619503 ORPHA:602 ORPHA:263297 ORPHA:324442 OMIM:137200 OMIM:615424 OMIM:606595 OMIM:616155 OMIM:614455 OMIM:619574 OMIM:613641 OMIM:614213 OMIM:118210 OMIM:617114 OMIM:169400 ORPHA:98912 ORPHA:298 OMIM:605588 OMIM:181350 OMIM:164310 OMIM:614436 OMIM:214500 OMIM:616280 OMIM:618124 ORPHA:99947 OMIM:617087 OMIM:609260 OMIM:617017 ORPHA:497764 ORPHA:466768 OMIM:616688 OMIM:618400 OMIM:118200 OMIM:607736 ORPHA:320375 OMIM:615035 ORPHA:59135 ORPHA:437572 ORPHA:266 ORPHA:399103 OMIM:256030 ORPHA:101085 OMIM:607684 ORPHA:637 OMIM:615883 OMIM:118300 ORPHA:90658 OMIM:118220 ORPHA:98908 OMIM:600882 ORPHA:477817 OMIM:620011 ORPHA:98 OMIM:604563 ORPHA:521411 ORPHA:99949 OMIM:605726 OMIM:620068 OMIM:618811 OMIM:158901 OMIM:616668 ORPHA:603 OMIM:617158 OMIM:616040 ORPHA:496756 OMIM:617207 OMIM:601954 OMIM:606071 ORPHA:178464 OMIM:603689 ORPHA:609 ORPHA:329478 ORPHA:435387 OMIM:619216
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.