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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Distal muscle weakness (HP:0002460)help
Term ID: 2460
Name: Distal muscle weakness
Synonym: Distal limb muscle weakness; Distal limb muscle weakness due to peripheral neuropathy; Distal limb weakness; Distal muscular weakness; Distal paresis; Muscle weakness, distal; Muscle weakness, distal limbs, due to neuronopathy; Weakness of distal muscles; Weakness of outermost muscles
Definition: Reduced strength of the musculature of the distal extremities.
Comments:
Reference: HP:0002460
Genes and Diseases:
 
       Child Nodes:
........expandParesis of extensor muscles of the big toe (HP:0002601) help
........expandFirst dorsal interossei muscle weakness (HP:0003392) help
........expandLate-onset distal muscle weakness (HP:0003810) help
........expandDistal upper limb muscle weakness (HP:0008959) help
........expandDistal lower limb muscle weakness (HP:0009053) help
................... HP:0008963 Tibialis muscle weakness
................... HP:0011727 Peroneal muscle weakness
........expandProgressive distal muscle weakness (HP:0009063) help

 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
..expandFacial palsy (HP:0010628) help
..expandFatigable weakness (HP:0003473) help
..expandGeneralized muscle weakness (HP:0003324) 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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002460HP:0002460Distal muscle weakness0AARS1 CL E G H1620OMIM:613287Charcot-Marie-Tooth disease, axonal, type 2N.
HP:0002460HP:0002460Distal muscle weakness0ABCA1 CL E G H1929ORPHA:31150Tangier diseaseHP:0040282 - Frequent191
HP:0002460HP:0002460Distal muscle weakness0ABCD1 CL E G H21561ORPHA:139399Adrenomyeloneuropathy135
HP:0002460HP:0002460Distal muscle weakness0ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0002460HP:0002460Distal muscle weakness0ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 396
HP:0002460HP:0002460Distal muscle weakness0ACTA1 CL E G H58129ORPHA:97240Zebra body myopathyHP:0040281 - Very frequent96
HP:0002460HP:0002460Distal muscle weakness0ACTN2 CL E G H88164OMIM:618654MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ307
HP:0002460HP:0002460Distal muscle weakness0ACTN2 CL E G H88164OMIM:618655MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6307
HP:0002460HP:0002460Distal muscle weakness0ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0002460HP:0002460Distal muscle weakness0AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndromeHP:0040282 - Frequent86
HP:0002460HP:0002460Distal muscle weakness0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromes127
HP:0002460HP:0002460Distal muscle weakness0AIFM1 CL E G H91318768ORPHA:101078X-linked Charcot-Marie-Tooth disease type 4HP:0040281 - Very frequent60
HP:0002460HP:0002460Distal muscle weakness0ALDH18A1 CL E G H58329722OMIM:601162Spastic paraplegia 9A, autosomal dominant89
HP:0002460HP:0002460Distal muscle weakness0ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040284 - Very rare12
HP:0002460HP:0002460Distal muscle weakness0ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040284 - Very rare46
HP:0002460HP:0002460Distal muscle weakness0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0002460HP:0002460Distal muscle weakness0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent114
HP:0002460HP:0002460Distal muscle weakness0ANG CL E G H283483OMIM:611895Amyotrophic lateral sclerosis 932
HP:0002460HP:0002460Distal muscle weakness0ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12304
HP:0002460HP:0002460Distal muscle weakness0ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathy304
HP:0002460HP:0002460Distal muscle weakness0ANO5 CL E G H20385927337OMIM:613319Miyoshi muscular dystrophy 3.304
HP:0002460HP:0002460Distal muscle weakness0ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 371
HP:0002460HP:0002460Distal muscle weakness0ATL1 CL E G H5106211231ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent71
HP:0002460HP:0002460Distal muscle weakness0ATL3 CL E G H2592324526ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent5
HP:0002460HP:0002460Distal muscle weakness0ATP1A1 CL E G H476799OMIM:618036Charcot-Marie-Tooth disease, axonal, type 2DD4
HP:0002460HP:0002460Distal muscle weakness0ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraine239
HP:0002460HP:0002460Distal muscle weakness0ATP6 CL E G H45087414ORPHA:320360MT-ATP6-related mitochondrial spastic paraplegia
HP:0002460HP:0002460Distal muscle weakness0ATP7A CL E G H538869OMIM:300489Spinal muscular atrophy, distal, X-linked 3.192
HP:0002460HP:0002460Distal muscle weakness0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 119
HP:0002460HP:0002460Distal muscle weakness0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040282 - Frequent14
HP:0002460HP:0002460Distal muscle weakness0BICD2 CL E G H2329917208ORPHA:363454BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophyHP:0040282 - Frequent46
HP:0002460HP:0002460Distal muscle weakness0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0002460HP:0002460Distal muscle weakness0BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 2.99
HP:0002460HP:0002460Distal muscle weakness0BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5105
HP:0002460HP:0002460Distal muscle weakness0BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0002460HP:0002460Distal muscle weakness0BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17.105
HP:0002460HP:0002460Distal muscle weakness0C19ORF12 CL E G H8363625443ORPHA:320370Autosomal recessive spastic paraplegia type 43HP:0040281 - Very frequent114
HP:0002460HP:0002460Distal muscle weakness0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4.114
HP:0002460HP:0002460Distal muscle weakness0C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent56
HP:0002460HP:0002460Distal muscle weakness0CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraine449
HP:0002460HP:0002460Distal muscle weakness0CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0002460HP:0002460Distal muscle weakness0CAV3 CL E G H8591529ORPHA:488650Distal myopathy, Tateyama type148
HP:0002460HP:0002460Distal muscle weakness0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0002460HP:0002460Distal muscle weakness0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromes65
HP:0002460HP:0002460Distal muscle weakness0CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intolerance11
HP:0002460HP:0002460Distal muscle weakness0CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent11
HP:0002460HP:0002460Distal muscle weakness0CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onset11
HP:0002460HP:0002460Distal muscle weakness0CHP1 CL E G H1126117433OMIM:618438Spastic ataxia 9, autosomal recessive.
HP:0002460HP:0002460Distal muscle weakness0COA7 CL E G H6526025716OMIM:618387Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3.
HP:0002460HP:0002460Distal muscle weakness0COL12A1 CL E G H13032188ORPHA:610Bethlem myopathyHP:0040282 - Frequent65
HP:0002460HP:0002460Distal muscle weakness0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromes6
HP:0002460HP:0002460Distal muscle weakness0COL6A1 CL E G H12912211ORPHA:610Bethlem myopathyHP:0040282 - Frequent442
HP:0002460HP:0002460Distal muscle weakness0COL6A1 CL E G H12912211OMIM:158810Bethlem myopathy 1.442
HP:0002460HP:0002460Distal muscle weakness0COL6A2 CL E G H12922212ORPHA:610Bethlem myopathyHP:0040282 - Frequent478
HP:0002460HP:0002460Distal muscle weakness0COL6A2 CL E G H12922212OMIM:158810Bethlem myopathy 1.478
HP:0002460HP:0002460Distal muscle weakness0COL6A2 CL E G H12922212OMIM:255600Myosclerosis, autosomal recessive.478
HP:0002460HP:0002460Distal muscle weakness0COL6A3 CL E G H12932213ORPHA:610Bethlem myopathyHP:0040282 - Frequent702
HP:0002460HP:0002460Distal muscle weakness0COL6A3 CL E G H12932213OMIM:158810Bethlem myopathy 1.702
HP:0002460HP:0002460Distal muscle weakness0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent90
HP:0002460HP:0002460Distal muscle weakness0CPOX CL E G H13712321ORPHA:79273Hereditary coproporphyriaHP:0040282 - Frequent72
HP:0002460HP:0002460Distal muscle weakness0CPT1C CL E G H12612918540ORPHA:444099Autosomal dominant spastic paraplegia type 731
HP:0002460HP:0002460Distal muscle weakness0CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathy46
HP:0002460HP:0002460Distal muscle weakness0CRYAB CL E G H14102389OMIM:608810Myopathy, myofibrillar, 2, mfm2.46
HP:0002460HP:0002460Distal muscle weakness0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040282 - Frequent60
HP:0002460HP:0002460Distal muscle weakness0DCAF8 CL E G H5071724891OMIM:610100Giant axonal neuropathy, autosomal dominant.2
HP:0002460HP:0002460Distal muscle weakness0DCTN1 CL E G H16392711OMIM:607641Neuronopathy, distal hereditary motor, type VIIB.86
HP:0002460HP:0002460Distal muscle weakness0DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive29
HP:0002460HP:0002460Distal muscle weakness0DES CL E G H16742770ORPHA:98909Desminopathy263
HP:0002460HP:0002460Distal muscle weakness0DES CL E G H16742770OMIM:601419Myopathy, myofibrillar, 1.263
HP:0002460HP:0002460Distal muscle weakness0DGUOK CL E G H17162858OMIM:617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4.57
HP:0002460HP:0002460Distal muscle weakness0DHH CL E G H508462865ORPHA:16856346,XY gonadal dysgenesis-motor and sensory neuropathy syndromeHP:0040281 - Very frequent21
HP:0002460HP:0002460Distal muscle weakness0DHTKD1 CL E G H5552623537OMIM:615025Charcot-Marie-Tooth disease, axonal, type 2Q12
HP:0002460HP:0002460Distal muscle weakness0DNM2 CL E G H17852974OMIM:606482Charcot-Marie-Tooth disease, dominant intermediate B167
HP:0002460HP:0002460Distal muscle weakness0DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0002460HP:0002460Distal muscle weakness0DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040284 - Very rare38
HP:0002460HP:0002460Distal muscle weakness0DYNC1H1 CL E G H17782961OMIM:614228Charcot-marie-tooth disease, axonal, type 2O.427
HP:0002460HP:0002460Distal muscle weakness0DYSF CL E G H82913097ORPHA:178400Distal myopathy with anterior tibial onset600
HP:0002460HP:0002460Distal muscle weakness0DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2600
HP:0002460HP:0002460Distal muscle weakness0DYSF CL E G H82913097OMIM:254130Miyoshi muscular dystrophy 1.600
HP:0002460HP:0002460Distal muscle weakness0DYSF CL E G H82913097ORPHA:45448Miyoshi myopathy600
HP:0002460HP:0002460Distal muscle weakness0DYSF CL E G H82913097OMIM:606768Myopathy, distal, with anterior tibial onset.600
HP:0002460HP:0002460Distal muscle weakness0EGR2 CL E G H19593239OMIM:607678Charcot-Marie-Tooth disease, demyelinating, type 1D.58
HP:0002460HP:0002460Distal muscle weakness0EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas58
HP:0002460HP:0002460Distal muscle weakness0EGR2 CL E G H19593239OMIM:605253Neuropathy, congenital hypomyelinating, 1, autosomal recessive.58
HP:0002460HP:0002460Distal muscle weakness0ELOVL5 CL E G H6048121308ORPHA:423296Spinocerebellar ataxia type 38HP:0040283 - Occasional4
HP:0002460HP:0002460Distal muscle weakness0EMILIN1 CL E G H1111719880OMIM:6200802
HP:0002460HP:0002460Distal muscle weakness0ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 18HP:0040281 - Very frequent18
HP:0002460HP:0002460Distal muscle weakness0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0002460HP:0002460Distal muscle weakness0FBLN5 CL E G H105163602OMIM:619764CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H63
HP:0002460HP:0002460Distal muscle weakness0FBLN5 CL E G H105163602OMIM:608895Macular degeneration, age-related, 363
HP:0002460HP:0002460Distal muscle weakness0FGD4 CL E G H12151219125OMIM:609311Charcot-marie-tooth disease, type 4H158
HP:0002460HP:0002460Distal muscle weakness0FIG4 CL E G H989616873OMIM:611228Charcot-Marie-Tooth disease, type 4J111
HP:0002460HP:0002460Distal muscle weakness0FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvement197
HP:0002460HP:0002460Distal muscle weakness0FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa111
HP:0002460HP:0002460Distal muscle weakness0FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent105
HP:0002460HP:0002460Distal muscle weakness0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent105
HP:0002460HP:0002460Distal muscle weakness0GAN CL E G H81394137ORPHA:643Giant axonal neuropathyHP:0040282 - Frequent121
HP:0002460HP:0002460Distal muscle weakness0GAN CL E G H81394137OMIM:256850Giant axonal neuropathy 1, autosomal recessive.121
HP:0002460HP:0002460Distal muscle weakness0GARS1 CL E G H26174162OMIM:601472Charcot-Marie-Tooth disease, axonal, type 2D.
HP:0002460HP:0002460Distal muscle weakness0GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5
HP:0002460HP:0002460Distal muscle weakness0GARS1 CL E G H26174162OMIM:600794Neuronopathy, distal hereditary motor, type VA
HP:0002460HP:0002460Distal muscle weakness0GARS1 CL E G H26174162OMIM:619042SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0002460HP:0002460Distal muscle weakness0GBF1 CL E G H87294181OMIM:606483Charcot-Marie-Tooth disease, dominant intermediate A
HP:0002460HP:0002460Distal muscle weakness0GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystonia86
HP:0002460HP:0002460Distal muscle weakness0GDAP1 CL E G H5433215968ORPHA:99944Autosomal dominant Charcot-Marie-Tooth disease type 2KHP:0040282 - Frequent108
HP:0002460HP:0002460Distal muscle weakness0GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0002460HP:0002460Distal muscle weakness0GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0002460HP:0002460Distal muscle weakness0GDAP1 CL E G H5433215968OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K.108
HP:0002460HP:0002460Distal muscle weakness0GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive.108
HP:0002460HP:0002460Distal muscle weakness0GDAP1 CL E G H5433215968OMIM:214400Charcot-Marie-Tooth disease, type 4A108
HP:0002460HP:0002460Distal muscle weakness0GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040284 - Very rare128
HP:0002460HP:0002460Distal muscle weakness0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0002460HP:0002460Distal muscle weakness0GIPC1 CL E G H107551226OMIM:618940OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0002460HP:0002460Distal muscle weakness0GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0002460HP:0002460Distal muscle weakness0GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040284 - Very rare34
HP:0002460HP:0002460Distal muscle weakness0GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R1934
HP:0002460HP:0002460Distal muscle weakness0GNE CL E G H1002023657ORPHA:602GNE myopathy173
HP:0002460HP:0002460Distal muscle weakness0GNE CL E G H1002023657OMIM:605820Nonaka myopathy.173
HP:0002460HP:0002460Distal muscle weakness0GRIA3 CL E G H28924573OMIM:300699Mental retardation, X-linked 9430
HP:0002460HP:0002460Distal muscle weakness0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0002460HP:0002460Distal muscle weakness0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome.
HP:0002460HP:0002460Distal muscle weakness0GYG1 CL E G H29924699OMIM:616199Polyglucosan body myopathy 2HP:0040283 - Occasional18
HP:0002460HP:0002460Distal muscle weakness0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiency99
HP:0002460HP:0002460Distal muscle weakness0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiency60
HP:0002460HP:0002460Distal muscle weakness0HARS1 CL E G H30354816ORPHA:488333Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0002460HP:0002460Distal muscle weakness0HARS1 CL E G H30354816OMIM:616625Charcot-Marie-Tooth disease, axonal, type 2W
HP:0002460HP:0002460Distal muscle weakness0HEXB CL E G H30744879ORPHA:309162Sandhoff disease, juvenile form80
HP:0002460HP:0002460Distal muscle weakness0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotonia12
HP:0002460HP:0002460Distal muscle weakness0HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4G11
HP:0002460HP:0002460Distal muscle weakness0HK1 CL E G H30984922OMIM:605285Neuropathy, hereditary motor and sensory, Russe type.11
HP:0002460HP:0002460Distal muscle weakness0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyriaHP:0040283 - Occasional81
HP:0002460HP:0002460Distal muscle weakness0HNRNPA1 CL E G H31785031ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040281 - Very frequent31
HP:0002460HP:0002460Distal muscle weakness0HNRNPA2B1 CL E G H31815033ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040281 - Very frequent5
HP:0002460HP:0002460Distal muscle weakness0HSPB1 CL E G H33155246OMIM:606595Charcot-Marie-Tooth disease, axonal, type 2F.47
HP:0002460HP:0002460Distal muscle weakness0HSPB1 CL E G H33155246OMIM:608634Neuronopathy, distal hereditary motor, type IIB47
HP:0002460HP:0002460Distal muscle weakness0HSPB3 CL E G H89885248OMIM:613376Neuronopathy, distal hereditary motor, type IIC.13
HP:0002460HP:0002460Distal muscle weakness0HSPB8 CL E G H2635330171OMIM:608673Charcot-Marie-Tooth disease, axonal, type 2L.38
HP:0002460HP:0002460Distal muscle weakness0HSPB8 CL E G H2635330171OMIM:158590Neuronopathy, distal hereditary motor, type IIA.38
HP:0002460HP:0002460Distal muscle weakness0IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 7416
HP:0002460HP:0002460Distal muscle weakness0IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1.209
HP:0002460HP:0002460Distal muscle weakness0IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystonia1
HP:0002460HP:0002460Distal muscle weakness0INF2 CL E G H6442323791OMIM:614455Charcot-Marie-Tooth disease, dominant intermediate E.135
HP:0002460HP:0002460Distal muscle weakness0ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type19
HP:0002460HP:0002460Distal muscle weakness0JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0002460HP:0002460Distal muscle weakness0JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0002460HP:0002460Distal muscle weakness0JPH1 CL E G H5670414201OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K.1
HP:0002460HP:0002460Distal muscle weakness0KIF1A CL E G H547888OMIM:614213Neuropathy, hereditary sensory, type IIC276
HP:0002460HP:0002460Distal muscle weakness0KIF1B CL E G H2309516636OMIM:118210Charcot-Marie-Tooth disease, axonal, type 2A1.202
HP:0002460HP:0002460Distal muscle weakness0KLHL9 CL E G H5595818732ORPHA:399081KLHL9-related early-onset distal myopathy3
HP:0002460HP:0002460Distal muscle weakness0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent92
HP:0002460HP:0002460Distal muscle weakness0LDB3 CL E G H1115515710OMIM:609452Myopathy, myofibrillar, 4286
HP:0002460HP:0002460Distal muscle weakness0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent1
HP:0002460HP:0002460Distal muscle weakness0LITAF CL E G H951616841OMIM:601098Charcot-Marie-Tooth disease, demyelinating, type 1C.74
HP:0002460HP:0002460Distal muscle weakness0LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0002460HP:0002460Distal muscle weakness0LMNA CL E G H40006636OMIM:605588Charcot-Marie-Tooth disease, axonal, type 2B1.645
HP:0002460HP:0002460Distal muscle weakness0LMNA CL E G H40006636OMIM:181350Emery-Dreifuss muscular dystrophy 2, autosomal dominant645
HP:0002460HP:0002460Distal muscle weakness0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0002460HP:0002460Distal muscle weakness0LRSAM1 CL E G H9067825135OMIM:614436Charcot-Marie-Tooth disease, axonal, type 2P.102
HP:0002460HP:0002460Distal muscle weakness0MAP3K20 CL E G H5177617797OMIM:617760Myopathy, centronuclear, 6, with fiber-type disproportion.2
HP:0002460HP:0002460Distal muscle weakness0MAPT CL E G H41376893ORPHA:240094Progressive supranuclear palsy-pure akinesia with gait freezing syndrome140
HP:0002460HP:0002460Distal muscle weakness0MARS1 CL E G H41416898OMIM:616280Charcot-Marie-Tooth disease, axonal, type 2U
HP:0002460HP:0002460Distal muscle weakness0MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 21.80
HP:0002460HP:0002460Distal muscle weakness0MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathyHP:0040282 - Frequent80
HP:0002460HP:0002460Distal muscle weakness0MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development3
HP:0002460HP:0002460Distal muscle weakness0MED25 CL E G H8185728845OMIM:605589Charcot-Marie-Tooth disease, axonal, type 2B2.43
HP:0002460HP:0002460Distal muscle weakness0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2203
HP:0002460HP:0002460Distal muscle weakness0MFN2 CL E G H992716877OMIM:609260Charcot-marie-tooth disease, axonal, type 2A2A.203
HP:0002460HP:0002460Distal muscle weakness0MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI.203
HP:0002460HP:0002460Distal muscle weakness0MLIP CL E G H9052321355OMIM:620138
HP:0002460HP:0002460Distal muscle weakness0MME CL E G H43117154ORPHA:497764Spinocerebellar ataxia type 4318
HP:0002460HP:0002460Distal muscle weakness0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040281 - Very frequent8
HP:0002460HP:0002460Distal muscle weakness0MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0002460HP:0002460Distal muscle weakness0MPV17 CL E G H43587224OMIM:618400Charcot-Marie-Tooth disease, axonal, type 2EE56
HP:0002460HP:0002460Distal muscle weakness0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy.56
HP:0002460HP:0002460Distal muscle weakness0MPZ CL E G H43597225OMIM:607677Charcot-Marie-Tooth disease, axonal, type 2I.134
HP:0002460HP:0002460Distal muscle weakness0MPZ CL E G H43597225OMIM:118200Charcot-Marie-Tooth disease, demyelinating, type 1B.134
HP:0002460HP:0002460Distal muscle weakness0MPZ CL E G H43597225OMIM:607791Charcot-Marie-Tooth disease, dominant intermediate D.134
HP:0002460HP:0002460Distal muscle weakness0MPZ CL E G H43597225OMIM:607736Charcot-Marie-Tooth disease, type 2J134
HP:0002460HP:0002460Distal muscle weakness0MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas134
HP:0002460HP:0002460Distal muscle weakness0MPZ CL E G H43597225OMIM:180800Roussy-Levy hereditary areflexic dystasia.134
HP:0002460HP:0002460Distal muscle weakness0MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0002460HP:0002460Distal muscle weakness0MTMR2 CL E G H88987450OMIM:601382Charcot-Marie-Tooth disease, type 4B1.88
HP:0002460HP:0002460Distal muscle weakness0MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55
HP:0002460HP:0002460Distal muscle weakness0MTTP CL E G H45477467ORPHA:14Abetalipoproteinemia81
HP:0002460HP:0002460Distal muscle weakness0MYBPC1 CL E G H46047549OMIM:618524MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM66
HP:0002460HP:0002460Distal muscle weakness0MYH14 CL E G H7978423212OMIM:614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss.227
HP:0002460HP:0002460Distal muscle weakness0MYH14 CL E G H7978423212ORPHA:397744Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome227
HP:0002460HP:0002460Distal muscle weakness0MYH2 CL E G H46207572OMIM:605637Myopathy, proximal, and ophthalmoplegiaHP:0040283 - Occasional105
HP:0002460HP:0002460Distal muscle weakness0MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathyHP:0040282 - Frequent1269
HP:0002460HP:0002460Distal muscle weakness0MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophy1269
HP:0002460HP:0002460Distal muscle weakness0MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 1.1269
HP:0002460HP:0002460Distal muscle weakness0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome5
HP:0002460HP:0002460Distal muscle weakness0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromes
HP:0002460HP:0002460Distal muscle weakness0MYOT CL E G H949912399ORPHA:266Autosomal dominant limb-girdle muscular dystrophy type 1AHP:0040282 - Frequent75
HP:0002460HP:0002460Distal muscle weakness0MYOT CL E G H949912399ORPHA:98911Distal myotilinopathy75
HP:0002460HP:0002460Distal muscle weakness0MYOT CL E G H949912399OMIM:182920Myopathy, spheroid body.75
HP:0002460HP:0002460Distal muscle weakness0MYOT CL E G H949912399OMIM:609200MYOTILINOPATHY75
HP:0002460HP:0002460Distal muscle weakness0NAGA CL E G H46687631OMIM:609242Kanzaki disease.47
HP:0002460HP:0002460Distal muscle weakness0NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4DHP:0040282 - Frequent82
HP:0002460HP:0002460Distal muscle weakness0NDRG1 CL E G H103977679OMIM:601455Charcot-Marie-Tooth disease, type 4D.82
HP:0002460HP:0002460Distal muscle weakness0NEB CL E G H47037720ORPHA:399103Distal nebulin myopathy745
HP:0002460HP:0002460Distal muscle weakness0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0002460HP:0002460Distal muscle weakness0NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2EHP:0040282 - Frequent118
HP:0002460HP:0002460Distal muscle weakness0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040281 - Very frequent118
HP:0002460HP:0002460Distal muscle weakness0NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E.118
HP:0002460HP:0002460Distal muscle weakness0NEFL CL E G H47477739OMIM:607734Charcot-Marie-Tooth disease, demyelinating, type 1F.118
HP:0002460HP:0002460Distal muscle weakness0NEFL CL E G H47477739OMIM:617882Charcot-Marie-Tooth disease, dominant intermediate G.118
HP:0002460HP:0002460Distal muscle weakness0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0002460HP:0002460Distal muscle weakness0NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystonia27
HP:0002460HP:0002460Distal muscle weakness0NUTM2B-AS1 CL E G H10106069151204OMIM:618637OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0002460HP:0002460Distal muscle weakness0PABPN1 CL E G H81068565OMIM:164300Oculopharyngeal muscular dystrophy.10
HP:0002460HP:0002460Distal muscle weakness0PHKA1 CL E G H52558925OMIM:300559Muscle glycogenosis, X-linked54
HP:0002460HP:0002460Distal muscle weakness0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17759
HP:0002460HP:0002460Distal muscle weakness0PLEKHG5 CL E G H5744929105OMIM:615376Charcot-Marie-Tooth disease, recessive intermediate C.186
HP:0002460HP:0002460Distal muscle weakness0PLEKHG5 CL E G H5744929105OMIM:611067Spinal muscular atrophy, distal, autosomal recessive, 4.186
HP:0002460HP:0002460Distal muscle weakness0PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G1
HP:0002460HP:0002460Distal muscle weakness0PMP22 CL E G H53769118ORPHA:98916Acute inflammatory demyelinating polyradiculoneuropathy79
HP:0002460HP:0002460Distal muscle weakness0PMP22 CL E G H53769118OMIM:118300Charcot-Marie-Tooth disease and deafness.79
HP:0002460HP:0002460Distal muscle weakness0PMP22 CL E G H53769118ORPHA:101081Charcot-Marie-Tooth disease type 1AHP:0040282 - Frequent79
HP:0002460HP:0002460Distal muscle weakness0PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1E79
HP:0002460HP:0002460Distal muscle weakness0PMP22 CL E G H53769118OMIM:118220Charcot-Marie-Tooth disease, demyelinating, type 1A.79
HP:0002460HP:0002460Distal muscle weakness0PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas79
HP:0002460HP:0002460Distal muscle weakness0PMP22 CL E G H53769118OMIM:180800Roussy-Levy hereditary areflexic dystasia.79
HP:0002460HP:0002460Distal muscle weakness0PNKP CL E G H112849154ORPHA:459033Ataxia-oculomotor apraxia type 4244
HP:0002460HP:0002460Distal muscle weakness0PNKP CL E G H112849154OMIM:605589Charcot-Marie-Tooth disease, axonal, type 2B2.244
HP:0002460HP:0002460Distal muscle weakness0PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathy65
HP:0002460HP:0002460Distal muscle weakness0PNPLA6 CL E G H1090816268OMIM:275400Oliver-Mcfarlane syndrome.103
HP:0002460HP:0002460Distal muscle weakness0PNPLA6 CL E G H1090816268OMIM:612020Spastic paraplegia 39, autosomal recessive103
HP:0002460HP:0002460Distal muscle weakness0POLG CL E G H54289179OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).464
HP:0002460HP:0002460Distal muscle weakness0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent464
HP:0002460HP:0002460Distal muscle weakness0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0002460HP:0002460Distal muscle weakness0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0002460HP:0002460Distal muscle weakness0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional2
HP:0002460HP:0002460Distal muscle weakness0PRPS1 CL E G H56319462OMIM:311070Charcot-Marie-Tooth disease, X-linked recessive, 5.49
HP:0002460HP:0002460Distal muscle weakness0PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraine94
HP:0002460HP:0002460Distal muscle weakness0PRX CL E G H5771613797OMIM:614895Charcot-Marie-Tooth disease, demyelinating, type 4F170
HP:0002460HP:0002460Distal muscle weakness0PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas170
HP:0002460HP:0002460Distal muscle weakness0PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic diseaseHP:0040282 - Frequent6
HP:0002460HP:0002460Distal muscle weakness0PTRH2 CL E G H5165124265OMIM:616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset.6
HP:0002460HP:0002460Distal muscle weakness0RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B50
HP:0002460HP:0002460Distal muscle weakness0RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndromeHP:0040282 - Frequent150
HP:0002460HP:0002460Distal muscle weakness0REEP1 CL E G H6505525786OMIM:62001187
HP:0002460HP:0002460Distal muscle weakness0REEP1 CL E G H6505525786ORPHA:139536Distal hereditary motor neuropathy type 587
HP:0002460HP:0002460Distal muscle weakness0REEP1 CL E G H6505525786OMIM:614751Neuronopathy, distal hereditary motor, type VB.87
HP:0002460HP:0002460Distal muscle weakness0RELA CL E G H59709955ORPHA:251636EpendymomaHP:0040283 - Occasional1
HP:0002460HP:0002460Distal muscle weakness0RFC1 CL E G H59819969ORPHA:504476Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndromeHP:0040282 - Frequent
HP:0002460HP:0002460Distal muscle weakness0RILPL1 CL E G H35311626814OMIM:619790OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0002460HP:0002460Distal muscle weakness0RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent125
HP:0002460HP:0002460Distal muscle weakness0RYR1 CL E G H626110483ORPHA:178145Moderate multiminicore disease with hand involvement1200
HP:0002460HP:0002460Distal muscle weakness0SACS CL E G H2627810519OMIM:270550Spastic ataxia, Charlevoix-Saguenay type.309
HP:0002460HP:0002460Distal muscle weakness0SARDH CL E G H175710536ORPHA:3129Sarcosinemia4
HP:0002460HP:0002460Distal muscle weakness0SBF1 CL E G H630510542OMIM:615284Charcot-Marie-Tooth disease, type 4B316
HP:0002460HP:0002460Distal muscle weakness0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0002460HP:0002460Distal muscle weakness0SBF2 CL E G H818462135OMIM:604563Charcot-Marie-Tooth disease, type 4B2.180
HP:0002460HP:0002460Distal muscle weakness0SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraine1053
HP:0002460HP:0002460Distal muscle weakness0SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome5
HP:0002460HP:0002460Distal muscle weakness0SECISBP2 CL E G H7904830972ORPHA:171706Short stature-delayed bone age due to thyroid hormone metabolism deficiency3
HP:0002460HP:0002460Distal muscle weakness0SETX CL E G H23064445OMIM:602433Amyotrophic lateral sclerosis 4, juvenile.162
HP:0002460HP:0002460Distal muscle weakness0SETX CL E G H23064445ORPHA:357043Amyotrophic lateral sclerosis type 4HP:0040282 - Frequent162
HP:0002460HP:0002460Distal muscle weakness0SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1162
HP:0002460HP:0002460Distal muscle weakness0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040282 - Frequent493
HP:0002460HP:0002460Distal muscle weakness0SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C.493
HP:0002460HP:0002460Distal muscle weakness0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent6
HP:0002460HP:0002460Distal muscle weakness0SIGMAR1 CL E G H102808157OMIM:605726Spinal muscular atrophy, distal, autosomal recessive, 2.6
HP:0002460HP:0002460Distal muscle weakness0SLC12A6 CL E G H999010914OMIM:620068163
HP:0002460HP:0002460Distal muscle weakness0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0002460HP:0002460Distal muscle weakness0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromes28
HP:0002460HP:0002460Distal muscle weakness0SLC25A19 CL E G H6038614409OMIM:613710Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)36
HP:0002460HP:0002460Distal muscle weakness0SLC25A21 CL E G H8987414411OMIM:618811MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0002460HP:0002460Distal muscle weakness0SLC5A6 CL E G H888411041OMIM:619903
HP:0002460HP:0002460Distal muscle weakness0SLC5A7 CL E G H6048214025OMIM:158580Neuronopathy, distal hereditary motor, type VIIA.9
HP:0002460HP:0002460Distal muscle weakness0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromes9
HP:0002460HP:0002460Distal muscle weakness0SMPX CL E G H2367611122OMIM:301075MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD712
HP:0002460HP:0002460Distal muscle weakness0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0002460HP:0002460Distal muscle weakness0SORD CL E G H665211184OMIM:618912SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0002460HP:0002460Distal muscle weakness0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0002460HP:0002460Distal muscle weakness0SPG11 CL E G H8020811226OMIM:602099Amyotrophic lateral sclerosis 5, juvenile.287
HP:0002460HP:0002460Distal muscle weakness0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent287
HP:0002460HP:0002460Distal muscle weakness0SPTLC1 CL E G H1055811277ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent54
HP:0002460HP:0002460Distal muscle weakness0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent54
HP:0002460HP:0002460Distal muscle weakness0SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA.54
HP:0002460HP:0002460Distal muscle weakness0SPTLC2 CL E G H951711278ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent149
HP:0002460HP:0002460Distal muscle weakness0SPTLC2 CL E G H951711278OMIM:613640Neuropathy, hereditary sensory and autonomic, type IC.149
HP:0002460HP:0002460Distal muscle weakness0SQSTM1 CL E G H887811280ORPHA:603Distal myopathy, Welander type62
HP:0002460HP:0002460Distal muscle weakness0SQSTM1 CL E G H887811280ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent62
HP:0002460HP:0002460Distal muscle weakness0SYT2 CL E G H12783311510OMIM:616040Myasthenic syndrome, congenital, 7, presynaptic.4
HP:0002460HP:0002460Distal muscle weakness0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromes4
HP:0002460HP:0002460Distal muscle weakness0TARDBP CL E G H2343511571ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent65
HP:0002460HP:0002460Distal muscle weakness0TBK1 CL E G H2911011584ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent20
HP:0002460HP:0002460Distal muscle weakness0TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G78
HP:0002460HP:0002460Distal muscle weakness0TDP1 CL E G H5577518884ORPHA:94124Spinocerebellar ataxia with axonal neuropathy type 152
HP:0002460HP:0002460Distal muscle weakness0TIA1 CL E G H707211802ORPHA:603Distal myopathy, Welander type5
HP:0002460HP:0002460Distal muscle weakness0TIA1 CL E G H707211802OMIM:604454Welander distal myopathy.5
HP:0002460HP:0002460Distal muscle weakness0TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic formHP:0040282 - Frequent103
HP:0002460HP:0002460Distal muscle weakness0TNPO3 CL E G H2353417103OMIM:608423Muscular dystrophy, limb-girdle, autosomal dominant 271
HP:0002460HP:0002460Distal muscle weakness0TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0002460HP:0002460Distal muscle weakness0TOR1AIP1 CL E G H2609229456OMIM:617072Muscular dystrophy, limb-girdle, type 2Y10
HP:0002460HP:0002460Distal muscle weakness0TPM3 CL E G H717012012OMIM:609284Nemaline myopathy 1108
HP:0002460HP:0002460Distal muscle weakness0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional7
HP:0002460HP:0002460Distal muscle weakness0TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC.214
HP:0002460HP:0002460Distal muscle weakness0TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy214
HP:0002460HP:0002460Distal muscle weakness0TRPV4 CL E G H5934118083OMIM:600175Spinal muscular atrophy, distal, congenital nonprogressive.214
HP:0002460HP:0002460Distal muscle weakness0TTN CL E G H727312403ORPHA:178464Hereditary myopathy with early respiratory failureHP:0040283 - Occasional7128
HP:0002460HP:0002460Distal muscle weakness0TTN CL E G H727312403OMIM:608807Muscular dystrophy, limb-girdle, autosomal recessive 10.7128
HP:0002460HP:0002460Distal muscle weakness0TTN CL E G H727312403ORPHA:609Tibial muscular dystrophy7128
HP:0002460HP:0002460Distal muscle weakness0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0002460HP:0002460Distal muscle weakness0TYMP CL E G H18903148OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).138
HP:0002460HP:0002460Distal muscle weakness0TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent138
HP:0002460HP:0002460Distal muscle weakness0UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophyHP:0040283 - Occasional35
HP:0002460HP:0002460Distal muscle weakness0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0002460HP:0002460Distal muscle weakness0VAPB CL E G H921712649OMIM:608627Amyotrophic lateral sclerosis 8116
HP:0002460HP:0002460Distal muscle weakness0VAPB CL E G H921712649OMIM:182980Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included116
HP:0002460HP:0002460Distal muscle weakness0VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutationHP:0040281 - Very frequent63
HP:0002460HP:0002460Distal muscle weakness0VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040282 - Frequent63
HP:0002460HP:0002460Distal muscle weakness0VCP CL E G H741512666ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent63
HP:0002460HP:0002460Distal muscle weakness0VCP CL E G H741512666ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040281 - Very frequent63
HP:0002460HP:0002460Distal muscle weakness0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0002460HP:0002460Distal muscle weakness0VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040282 - Frequent130
HP:0002460HP:0002460Distal muscle weakness0VPS13D CL E G H5518723595OMIM:607317Spinocerebellar ataxia, autosomal recessive 4.
HP:0002460HP:0002460Distal muscle weakness0VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0002460HP:0002460Distal muscle weakness0XRCC1 CL E G H751512828OMIM:617633Spinocerebellar ataxia, autosomal recessive 26.4
HP:0002460HP:0002460Distal muscle weakness0YARS1 CL E G H856512840OMIM:608323Charcot-Marie-Tooth disease, dominant intermediate C.
HP:0002460HP:0002460Distal muscle weakness0ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0002460HP:0002460Distal muscle weakness0ZFTA CL E G H6599828449ORPHA:251636EpendymomaHP:0040283 - Occasional
HP:0002460HP:0009053Distal lower limb muscle weakness1ABCD1 CL E G H21561ORPHA:139399AdrenomyeloneuropathyHP:0040281 - Very frequent135
HP:0002460HP:0003810Late-onset distal muscle weakness1ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 3.96
HP:0002460HP:0009053Distal lower limb muscle weakness1ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040282 - Frequent
HP:0002460HP:0008959Distal upper limb muscle weakness1ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040282 - Frequent
HP:0002460HP:0009053Distal lower limb muscle weakness1AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional127
HP:0002460HP:0009053Distal lower limb muscle weakness1ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12HP:0040281 - Very frequent304
HP:0002460HP:0009053Distal lower limb muscle weakness1ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathyHP:0040281 - Very frequent304
HP:0002460HP:0009053Distal lower limb muscle weakness1ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 3HP:0040281 - Very frequent71
HP:0002460HP:0008959Distal upper limb muscle weakness1ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional239
HP:0002460HP:0003392First dorsal interossei muscle weakness1ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraineHP:0040284 - Very rare239
HP:0002460HP:0009053Distal lower limb muscle weakness1ATP6 CL E G H45087414ORPHA:320360MT-ATP6-related mitochondrial spastic paraplegiaHP:0040282 - Frequent
HP:0002460HP:0009053Distal lower limb muscle weakness1BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0002460HP:0009053Distal lower limb muscle weakness1BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent105
HP:0002460HP:0003392First dorsal interossei muscle weakness1BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent105
HP:0002460HP:0009053Distal lower limb muscle weakness1BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0002460HP:0003392First dorsal interossei muscle weakness1BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17.105
HP:0002460HP:0003392First dorsal interossei muscle weakness1CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraineHP:0040284 - Very rare449
HP:0002460HP:0008959Distal upper limb muscle weakness1CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional449
HP:0002460HP:0008959Distal upper limb muscle weakness1CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0002460HP:0009063Progressive distal muscle weakness1CAV3 CL E G H8591529ORPHA:488650Distal myopathy, Tateyama typeHP:0040282 - Frequent148
HP:0002460HP:0009053Distal lower limb muscle weakness1CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional1
HP:0002460HP:0009053Distal lower limb muscle weakness1CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional65
HP:0002460HP:0009053Distal lower limb muscle weakness1CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intoleranceHP:0040282 - Frequent11
HP:0002460HP:0009053Distal lower limb muscle weakness1CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onsetHP:0040281 - Very frequent11
HP:0002460HP:0009053Distal lower limb muscle weakness1COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional6
HP:0002460HP:0009053Distal lower limb muscle weakness1CPT1C CL E G H12612918540ORPHA:444099Autosomal dominant spastic paraplegia type 73HP:0040282 - Frequent1
HP:0002460HP:0009063Progressive distal muscle weakness1CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathyHP:0040281 - Very frequent46
HP:0002460HP:0008959Distal upper limb muscle weakness1DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive29
HP:0002460HP:0009053Distal lower limb muscle weakness1DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive29
HP:0002460HP:0009053Distal lower limb muscle weakness1DES CL E G H16742770ORPHA:98909DesminopathyHP:0040281 - Very frequent263
HP:0002460HP:0009053Distal lower limb muscle weakness1DHTKD1 CL E G H5552623537OMIM:615025Charcot-Marie-Tooth disease, axonal, type 2Q12
HP:0002460HP:0009053Distal lower limb muscle weakness1DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0002460HP:0009053Distal lower limb muscle weakness1DYSF CL E G H82913097ORPHA:178400Distal myopathy with anterior tibial onset600
HP:0002460HP:0008959Distal upper limb muscle weakness1DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2HP:0040284 - Very rare600
HP:0002460HP:0009053Distal lower limb muscle weakness1DYSF CL E G H82913097ORPHA:45448Miyoshi myopathyHP:0040282 - Frequent600
HP:0002460HP:0009053Distal lower limb muscle weakness1EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas58
HP:0002460HP:0009053Distal lower limb muscle weakness1EMILIN1 CL E G H1111719880OMIM:6200802
HP:0002460HP:0009053Distal lower limb muscle weakness1EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0002460HP:0009053Distal lower limb muscle weakness1FBLN5 CL E G H105163602OMIM:619764CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H63
HP:0002460HP:0008959Distal upper limb muscle weakness1FBLN5 CL E G H105163602OMIM:619764CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H63
HP:0002460HP:0009053Distal lower limb muscle weakness1FGD4 CL E G H12151219125OMIM:609311Charcot-marie-tooth disease, type 4H158
HP:0002460HP:0008959Distal upper limb muscle weakness1FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvementHP:0040283 - Occasional197
HP:0002460HP:0009053Distal lower limb muscle weakness1FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvementHP:0040282 - Frequent197
HP:0002460HP:0003392First dorsal interossei muscle weakness1GARS1 CL E G H26174162OMIM:601472Charcot-Marie-Tooth disease, axonal, type 2D.
HP:0002460HP:0003392First dorsal interossei muscle weakness1GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent
HP:0002460HP:0009053Distal lower limb muscle weakness1GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent
HP:0002460HP:0003392First dorsal interossei muscle weakness1GARS1 CL E G H26174162OMIM:600794Neuronopathy, distal hereditary motor, type VA.
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040283 - Occasional86
HP:0002460HP:0008959Distal upper limb muscle weakness1GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0002460HP:0009053Distal lower limb muscle weakness1GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0002460HP:0009063Progressive distal muscle weakness1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0002460HP:0009053Distal lower limb muscle weakness1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0002460HP:0008959Distal upper limb muscle weakness1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040283 - Occasional
HP:0002460HP:0009053Distal lower limb muscle weakness1GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0002460HP:0008959Distal upper limb muscle weakness1GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R19HP:0040283 - Occasional34
HP:0002460HP:0009053Distal lower limb muscle weakness1GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R19HP:0040283 - Occasional34
HP:0002460HP:0009053Distal lower limb muscle weakness1GNE CL E G H1002023657ORPHA:602GNE myopathy173
HP:0002460HP:0009053Distal lower limb muscle weakness1GNE CL E G H1002023657OMIM:605820Nonaka myopathy173
HP:0002460HP:0009053Distal lower limb muscle weakness1GYG1 CL E G H29924699OMIM:616199Polyglucosan body myopathy 218
HP:0002460HP:0009063Progressive distal muscle weakness1HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent99
HP:0002460HP:0009063Progressive distal muscle weakness1HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent60
HP:0002460HP:0008959Distal upper limb muscle weakness1HARS1 CL E G H30354816ORPHA:488333Autosomal dominant Charcot-Marie-Tooth disease type 2WHP:0040281 - Very frequent
HP:0002460HP:0009053Distal lower limb muscle weakness1HARS1 CL E G H30354816ORPHA:488333Autosomal dominant Charcot-Marie-Tooth disease type 2WHP:0040281 - Very frequent
HP:0002460HP:0009053Distal lower limb muscle weakness1HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040281 - Very frequent12
HP:0002460HP:0008959Distal upper limb muscle weakness1HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4GHP:0040282 - Frequent11
HP:0002460HP:0009053Distal lower limb muscle weakness1HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4GHP:0040281 - Very frequent11
HP:0002460HP:0009053Distal lower limb muscle weakness1HSPB1 CL E G H33155246OMIM:608634Neuronopathy, distal hereditary motor, type IIB.47
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1HSPB1 CL E G H33155246OMIM:608634Neuronopathy, distal hereditary motor, type IIB.47
HP:0002460HP:0009053Distal lower limb muscle weakness1HSPB3 CL E G H89885248OMIM:613376Neuronopathy, distal hereditary motor, type IIC.13
HP:0002460HP:0008959Distal upper limb muscle weakness1HSPB3 CL E G H89885248OMIM:613376Neuronopathy, distal hereditary motor, type IIC.13
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1HSPB8 CL E G H2635330171OMIM:158590Neuronopathy, distal hereditary motor, type IIA.38
HP:0002460HP:0009053Distal lower limb muscle weakness1HSPB8 CL E G H2635330171OMIM:158590Neuronopathy, distal hereditary motor, type IIA.38
HP:0002460HP:0009053Distal lower limb muscle weakness1IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 74HP:0040282 - Frequent16
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040283 - Occasional1
HP:0002460HP:0003392First dorsal interossei muscle weakness1JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0002460HP:0008959Distal upper limb muscle weakness1JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0002460HP:0009053Distal lower limb muscle weakness1JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0002460HP:0009053Distal lower limb muscle weakness1KIF1A CL E G H547888OMIM:614213Neuropathy, hereditary sensory, type IIC276
HP:0002460HP:0009063Progressive distal muscle weakness1KLHL9 CL E G H5595818732ORPHA:399081KLHL9-related early-onset distal myopathyHP:0040281 - Very frequent3
HP:0002460HP:0009063Progressive distal muscle weakness1LDB3 CL E G H1115515710OMIM:609452Myopathy, myofibrillar, 4.286
HP:0002460HP:0009053Distal lower limb muscle weakness1LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0002460HP:0008959Distal upper limb muscle weakness1LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0002460HP:0009053Distal lower limb muscle weakness1LMNA CL E G H40006636OMIM:181350Emery-Dreifuss muscular dystrophy 2, autosomal dominant.645
HP:0002460HP:0009053Distal lower limb muscle weakness1MAPT CL E G H41376893ORPHA:240094Progressive supranuclear palsy-pure akinesia with gait freezing syndromeHP:0040283 - Occasional140
HP:0002460HP:0009053Distal lower limb muscle weakness1MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 2180
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040282 - Frequent203
HP:0002460HP:0009053Distal lower limb muscle weakness1MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040282 - Frequent203
HP:0002460HP:0008959Distal upper limb muscle weakness1MLIP CL E G H9052321355OMIM:620138
HP:0002460HP:0009053Distal lower limb muscle weakness1MME CL E G H43117154ORPHA:497764Spinocerebellar ataxia type 43HP:0040281 - Very frequent18
HP:0002460HP:0008959Distal upper limb muscle weakness1MME CL E G H43117154ORPHA:497764Spinocerebellar ataxia type 43HP:0040281 - Very frequent18
HP:0002460HP:0009053Distal lower limb muscle weakness1MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040281 - Very frequent8
HP:0002460HP:0008959Distal upper limb muscle weakness1MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040283 - Occasional8
HP:0002460HP:0009053Distal lower limb muscle weakness1MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas134
HP:0002460HP:0009053Distal lower limb muscle weakness1MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0002460HP:0009053Distal lower limb muscle weakness1MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55
HP:0002460HP:0009053Distal lower limb muscle weakness1MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040283 - Occasional81
HP:0002460HP:0009063Progressive distal muscle weakness1MYH14 CL E G H7978423212ORPHA:397744Peripheral neuropathy-myopathy-hoarseness-hearing loss syndromeHP:0040282 - Frequent227
HP:0002460HP:0009053Distal lower limb muscle weakness1MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040283 - Occasional1269
HP:0002460HP:0009053Distal lower limb muscle weakness1MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 11269
HP:0002460HP:0009053Distal lower limb muscle weakness1MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional
HP:0002460HP:0009063Progressive distal muscle weakness1MYOT CL E G H949912399ORPHA:98911Distal myotilinopathyHP:0040281 - Very frequent75
HP:0002460HP:0009063Progressive distal muscle weakness1MYOT CL E G H949912399OMIM:609200MYOTILINOPATHY.75
HP:0002460HP:0008959Distal upper limb muscle weakness1NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4DHP:0040283 - Occasional82
HP:0002460HP:0009053Distal lower limb muscle weakness1NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4DHP:0040281 - Very frequent82
HP:0002460HP:0009063Progressive distal muscle weakness1NEB CL E G H47037720ORPHA:399103Distal nebulin myopathyHP:0040282 - Frequent745
HP:0002460HP:0003810Late-onset distal muscle weakness1NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive.745
HP:0002460HP:0009053Distal lower limb muscle weakness1NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040282 - Frequent118
HP:0002460HP:0008959Distal upper limb muscle weakness1NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E118
HP:0002460HP:0009053Distal lower limb muscle weakness1NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E118
HP:0002460HP:0009053Distal lower limb muscle weakness1NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0002460HP:0008959Distal upper limb muscle weakness1NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040283 - Occasional
HP:0002460HP:0009063Progressive distal muscle weakness1NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040283 - Occasional27
HP:0002460HP:0009053Distal lower limb muscle weakness1PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17HP:0040283 - Occasional759
HP:0002460HP:0009053Distal lower limb muscle weakness1PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G1
HP:0002460HP:0009053Distal lower limb muscle weakness1PMP22 CL E G H53769118ORPHA:98916Acute inflammatory demyelinating polyradiculoneuropathyHP:0040282 - Frequent79
HP:0002460HP:0009053Distal lower limb muscle weakness1PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040281 - Very frequent79
HP:0002460HP:0009053Distal lower limb muscle weakness1PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas79
HP:0002460HP:0009053Distal lower limb muscle weakness1PNKP CL E G H112849154ORPHA:459033Ataxia-oculomotor apraxia type 4HP:0040283 - Occasional244
HP:0002460HP:0009063Progressive distal muscle weakness1PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathyHP:0040283 - Occasional65
HP:0002460HP:0009053Distal lower limb muscle weakness1PNPLA6 CL E G H1090816268OMIM:612020Spastic paraplegia 39, autosomal recessive103
HP:0002460HP:0008959Distal upper limb muscle weakness1PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional94
HP:0002460HP:0003392First dorsal interossei muscle weakness1PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraineHP:0040284 - Very rare94
HP:0002460HP:0009053Distal lower limb muscle weakness1PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas170
HP:0002460HP:0009053Distal lower limb muscle weakness1RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B50
HP:0002460HP:0003392First dorsal interossei muscle weakness1REEP1 CL E G H6505525786ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent87
HP:0002460HP:0009053Distal lower limb muscle weakness1REEP1 CL E G H6505525786ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent87
HP:0002460HP:0008959Distal upper limb muscle weakness1RYR1 CL E G H626110483ORPHA:178145Moderate multiminicore disease with hand involvementHP:0040282 - Frequent1200
HP:0002460HP:0009053Distal lower limb muscle weakness1SARDH CL E G H175710536ORPHA:3129Sarcosinemia4
HP:0002460HP:0009053Distal lower limb muscle weakness1SBF1 CL E G H630510542OMIM:615284Charcot-Marie-Tooth disease, type 4B316
HP:0002460HP:0008959Distal upper limb muscle weakness1SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0002460HP:0009053Distal lower limb muscle weakness1SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0002460HP:0003392First dorsal interossei muscle weakness1SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraineHP:0040284 - Very rare1053
HP:0002460HP:0008959Distal upper limb muscle weakness1SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional1053
HP:0002460HP:0009053Distal lower limb muscle weakness1SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeHP:0040282 - Frequent5
HP:0002460HP:0009053Distal lower limb muscle weakness1SECISBP2 CL E G H7904830972ORPHA:171706Short stature-delayed bone age due to thyroid hormone metabolism deficiency3
HP:0002460HP:0009053Distal lower limb muscle weakness1SLC12A6 CL E G H999010914OMIM:620068163
HP:0002460HP:0009053Distal lower limb muscle weakness1SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional2
HP:0002460HP:0009053Distal lower limb muscle weakness1SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional28
HP:0002460HP:0009053Distal lower limb muscle weakness1SLC5A6 CL E G H888411041OMIM:619903
HP:0002460HP:0009053Distal lower limb muscle weakness1SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional9
HP:0002460HP:0009053Distal lower limb muscle weakness1SMPX CL E G H2367611122OMIM:301075MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD712
HP:0002460HP:0008959Distal upper limb muscle weakness1SMPX CL E G H2367611122OMIM:301075MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD712
HP:0002460HP:0009053Distal lower limb muscle weakness1SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional2
HP:0002460HP:0008959Distal upper limb muscle weakness1SORD CL E G H665211184OMIM:618912SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0002460HP:0009053Distal lower limb muscle weakness1SORD CL E G H665211184OMIM:618912SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0002460HP:0009053Distal lower limb muscle weakness1SPTLC2 CL E G H951711278OMIM:613640Neuropathy, hereditary sensory and autonomic, type IC149
HP:0002460HP:0008959Distal upper limb muscle weakness1SPTLC2 CL E G H951711278OMIM:613640Neuropathy, hereditary sensory and autonomic, type IC149
HP:0002460HP:0008959Distal upper limb muscle weakness1SQSTM1 CL E G H887811280ORPHA:603Distal myopathy, Welander typeHP:0040281 - Very frequent62
HP:0002460HP:0009053Distal lower limb muscle weakness1SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional4
HP:0002460HP:0009053Distal lower limb muscle weakness1TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G.78
HP:0002460HP:0009053Distal lower limb muscle weakness1TDP1 CL E G H5577518884ORPHA:94124Spinocerebellar ataxia with axonal neuropathy type 1HP:0040282 - Frequent52
HP:0002460HP:0008959Distal upper limb muscle weakness1TIA1 CL E G H707211802ORPHA:603Distal myopathy, Welander typeHP:0040281 - Very frequent5
HP:0002460HP:0003810Late-onset distal muscle weakness1TNPO3 CL E G H2353417103OMIM:608423Muscular dystrophy, limb-girdle, autosomal dominant 2.71
HP:0002460HP:0008959Distal upper limb muscle weakness1TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0002460HP:0009053Distal lower limb muscle weakness1TPM3 CL E G H717012012OMIM:609284Nemaline myopathy 1.108
HP:0002460HP:0008959Distal upper limb muscle weakness1TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC214
HP:0002460HP:0009053Distal lower limb muscle weakness1TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC214
HP:0002460HP:0009063Progressive distal muscle weakness1TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy.214
HP:0002460HP:0009053Distal lower limb muscle weakness1TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy214
HP:0002460HP:0009053Distal lower limb muscle weakness1TRPV4 CL E G H5934118083OMIM:600175Spinal muscular atrophy, distal, congenital nonprogressive214
HP:0002460HP:0009053Distal lower limb muscle weakness1TTN CL E G H727312403ORPHA:178464Hereditary myopathy with early respiratory failure7128
HP:0002460HP:0008959Distal upper limb muscle weakness1TTN CL E G H727312403ORPHA:609Tibial muscular dystrophyHP:0040284 - Very rare7128
HP:0002460HP:0009053Distal lower limb muscle weakness1VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional2
HP:0002460HP:0008959Distal upper limb muscle weakness1VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040282 - Frequent63
HP:0002460HP:0009053Distal lower limb muscle weakness1VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040283 - Occasional63
HP:0002460HP:0009053Distal lower limb muscle weakness1VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional490
HP:0002460HP:0009053Distal lower limb muscle weakness1VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0002460HP:0008959Distal upper limb muscle weakness1VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0002460HP:0008963Tibialis muscle weakness2DYSF CL E G H82913097ORPHA:178400Distal myopathy with anterior tibial onsetHP:0040282 - Frequent600
HP:0002460HP:0008963Tibialis muscle weakness2DYSF CL E G H82913097ORPHA:45448Miyoshi myopathyHP:0040282 - Frequent600
HP:0002460HP:0011727Peroneal muscle weakness2GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0002460HP:0008963Tibialis muscle weakness2GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040283 - Occasional
HP:0002460HP:0008963Tibialis muscle weakness2GNE CL E G H1002023657ORPHA:602GNE myopathyHP:0040281 - Very frequent173
HP:0002460HP:0011727Peroneal muscle weakness2GYG1 CL E G H29924699OMIM:616199Polyglucosan body myopathy 218
HP:0002460HP:0011727Peroneal muscle weakness2LMNA CL E G H40006636OMIM:181350Emery-Dreifuss muscular dystrophy 2, autosomal dominant.645
HP:0002460HP:0008963Tibialis muscle weakness2MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55HP:0040282 - Frequent
HP:0002460HP:0008963Tibialis muscle weakness2MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040281 - Very frequent1269
HP:0002460HP:0008963Tibialis muscle weakness2NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040283 - Occasional
HP:0002460HP:0011727Peroneal muscle weakness2PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040282 - Frequent79
HP:0002460HP:0011727Peroneal muscle weakness2SARDH CL E G H175710536ORPHA:3129SarcosinemiaHP:0040283 - Occasional4
HP:0002460HP:0011727Peroneal muscle weakness2TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy.214
HP:0002460HP:0008963Tibialis muscle weakness2TTN CL E G H727312403ORPHA:178464Hereditary myopathy with early respiratory failureHP:0040283 - Occasional7128


Genes (218) :AARS1 ABCA1 ABCD1 ABHD16A ACTA1 ACTN2 ADSS1 AFG3L2 AGRN AIFM1 ALDH18A1 ALG14 ALG2 ALS2 ANG ANO5 ATL1 ATL3 ATP1A1 ATP1A2 ATP6 ATP7A ATXN1 ATXN3 BICD2 BIN1 BSCL2 C19ORF12 C9ORF72 CACNA1A CADM3 CAV3 CCND1 CHAT CHCHD10 CHP1 COA7 COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 COLQ CPOX CPT1C CRYAB DARS2 DCAF8 DCTN1 DDHD2 DES DGUOK DHH DHTKD1 DNM2 DPAGT1 DYNC1H1 DYSF EGR2 ELOVL5 EMILIN1 ERLIN2 EXTL3 FBLN5 FGD4 FIG4 FLNC FLVCR1 FUS GAN GARS1 GBF1 GCH1 GDAP1 GFPT1 GIPC1 GJB1 GMPPB GNE GRIA3 GTPBP2 GYG1 HADHA HADHB HARS1 HEXB HINT1 HK1 HMBS HNRNPA1 HNRNPA2B1 HSPB1 HSPB3 HSPB8 IBA57 IGHMBP2 IMPDH2 INF2 ISCU JAG1 JAG2 JPH1 KIF1A KIF1B KLHL9 LAMB2 LDB3 LIG3 LITAF LMNA LRP12 LRSAM1 MAP3K20 MAPT MARS1 MATR3 MCM3AP MED25 MFN2 MLIP MME MORC2 MPV17 MPZ MTMR14 MTMR2 MTRFR MTTP MYBPC1 MYH14 MYH2 MYH7 MYMK MYO9A MYOT NAGA NDRG1 NEB NEFL NOTCH2NLC NR4A2 NUTM2B-AS1 PABPN1 PHKA1 PLEC PLEKHG5 PMP2 PMP22 PNKP PNPLA2 PNPLA6 POLG PPP1R15B PRPS1 PRRT2 PRX PTRH2 RAB7A RAI1 REEP1 RELA RFC1 RILPL1 RRM2B RYR1 SACS SARDH SBF1 SBF2 SCN1A SCYL1 SECISBP2 SETX SH3TC2 SIGMAR1 SLC12A6 SLC18A3 SLC25A1 SLC25A19 SLC25A21 SLC5A6 SLC5A7 SMPX SNAP25 SORD SOX10 SPG11 SPTLC1 SPTLC2 SQSTM1 SYT2 TARDBP TBK1 TCAP TDP1 TIA1 TK2 TNPO3 TNR TOR1AIP1 TPM3 TRMT10A TRPV4 TTN TWNK TYMP UBA1 VAMP1 VAPB VCP VHL VPS13A VPS13D VWA1 XRCC1 YARS1 ZC4H2 ZFTA

Diseases (265) :OMIM:613287 ORPHA:31150 ORPHA:139399 OMIM:619735 OMIM:161800 ORPHA:97240 OMIM:618654 OMIM:618655 ORPHA:482601 ORPHA:313772 ORPHA:98914 ORPHA:101078 OMIM:601162 ORPHA:353327 OMIM:205100 ORPHA:300605 OMIM:611895 ORPHA:206549 ORPHA:399096 OMIM:613319 ORPHA:100984 ORPHA:36386 OMIM:618036 ORPHA:569 ORPHA:320360 OMIM:300489 OMIM:164400 ORPHA:276244 ORPHA:363454 OMIM:615290 OMIM:255200 ORPHA:139536 OMIM:619112 OMIM:270685 ORPHA:320370 OMIM:614298 ORPHA:275872 OMIM:619519 ORPHA:488650 ORPHA:892 ORPHA:457050 ORPHA:276435 OMIM:618438 OMIM:618387 ORPHA:610 OMIM:158810 OMIM:255600 ORPHA:98915 ORPHA:79273 ORPHA:444099 ORPHA:399058 OMIM:608810 ORPHA:137898 OMIM:610100 OMIM:607641 OMIM:615033 ORPHA:98909 OMIM:601419 OMIM:617070 ORPHA:168563 OMIM:615025 OMIM:606482 OMIM:160150 OMIM:614228 ORPHA:178400 ORPHA:268 OMIM:254130 ORPHA:45448 OMIM:606768 OMIM:607678 OMIM:145900 OMIM:605253 ORPHA:423296 OMIM:620080 ORPHA:209951 ORPHA:508533 OMIM:619764 OMIM:608895 OMIM:609311 OMIM:611228 ORPHA:63273 OMIM:609033 ORPHA:643 OMIM:256850 OMIM:601472 OMIM:600794 OMIM:619042 OMIM:606483 ORPHA:98808 ORPHA:99944 ORPHA:101097 ORPHA:99948 OMIM:607831 OMIM:607706 OMIM:214400 ORPHA:98897 OMIM:618940 OMIM:302800 ORPHA:363623 ORPHA:602 OMIM:605820 OMIM:300699 ORPHA:364028 OMIM:617988 OMIM:616199 ORPHA:746 ORPHA:488333 OMIM:616625 ORPHA:309162 ORPHA:324442 ORPHA:99953 OMIM:605285 ORPHA:79276 ORPHA:52430 OMIM:606595 OMIM:608634 OMIM:613376 OMIM:608673 OMIM:158590 ORPHA:468661 OMIM:604320 OMIM:614455 OMIM:255125 OMIM:619574 OMIM:619566 OMIM:614213 OMIM:118210 ORPHA:399081 OMIM:609452 ORPHA:298 OMIM:601098 ORPHA:98856 OMIM:605588 OMIM:181350 OMIM:164310 OMIM:614436 OMIM:617760 ORPHA:240094 OMIM:616280 OMIM:606070 ORPHA:600 OMIM:618124 OMIM:605589 ORPHA:99947 OMIM:609260 OMIM:601152 OMIM:620138 ORPHA:497764 ORPHA:466768 OMIM:616688 OMIM:618400 OMIM:256810 OMIM:607677 OMIM:118200 OMIM:607791 OMIM:607736 OMIM:180800 OMIM:601382 ORPHA:320375 ORPHA:14 OMIM:618524 OMIM:614369 ORPHA:397744 OMIM:605637 ORPHA:59135 ORPHA:437572 OMIM:160500 OMIM:254940 ORPHA:266 ORPHA:98911 OMIM:182920 OMIM:609200 OMIM:609242 ORPHA:99950 OMIM:601455 ORPHA:399103 OMIM:256030 ORPHA:99939 ORPHA:101085 OMIM:607684 OMIM:607734 OMIM:617882 OMIM:618637 OMIM:164300 OMIM:300559 ORPHA:254361 OMIM:615376 OMIM:611067 OMIM:618279 ORPHA:98916 OMIM:118300 ORPHA:101081 ORPHA:90658 OMIM:118220 ORPHA:459033 ORPHA:98908 OMIM:275400 OMIM:612020 OMIM:603041 OMIM:258450 OMIM:607459 ORPHA:391408 OMIM:311070 OMIM:614895 ORPHA:456312 OMIM:616263 OMIM:600882 ORPHA:477817 OMIM:620011 OMIM:614751 ORPHA:251636 ORPHA:504476 OMIM:619790 ORPHA:178145 OMIM:270550 ORPHA:3129 OMIM:615284 ORPHA:99956 OMIM:604563 ORPHA:466794 ORPHA:171706 OMIM:602433 ORPHA:357043 OMIM:606002 ORPHA:99949 OMIM:601596 OMIM:605726 OMIM:620068 OMIM:613710 OMIM:618811 OMIM:619903 OMIM:158580 OMIM:301075 OMIM:618912 OMIM:609136 OMIM:602099 OMIM:162400 OMIM:613640 ORPHA:603 OMIM:616040 OMIM:601954 ORPHA:94124 OMIM:604454 ORPHA:254875 OMIM:608423 OMIM:619653 OMIM:617072 OMIM:609284 OMIM:606071 OMIM:181405 OMIM:600175 ORPHA:178464 OMIM:608807 ORPHA:609 ORPHA:1145 OMIM:608627 OMIM:182980 ORPHA:329478 ORPHA:435387 ORPHA:2388 OMIM:607317 OMIM:619216 OMIM:617633 OMIM:608323 OMIM:301041
 

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