Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system morphology (HP:0012639)help
Parent Node:
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Abnormal neuron morphology (HP:0012757)help
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Abnormal motor neuron morphology (HP:0002450)help
Term ID: 2450
Name: Abnormal motor neuron morphology
Synonym: Abnormal shape of motor neuron
Definition: Any structural anomaly that affects the motor neuron.
Comments:
Reference: HP:0002450
Genes and Diseases:
 
       Child Nodes:
........expandAbnormal upper motor neuron morphology (HP:0002127) help
........expandAbnormal lower motor neuron morphology (HP:0002366) help
........expandAbnormal anterior horn cell morphology (HP:0006802) help
................... HP:0002398 Degeneration of anterior horn cells
........expandPaucity of anterior horn motor neurons (HP:0007277) help
........expandMotor neuron atrophy (HP:0007373) help
................... HP:0002398 Degeneration of anterior horn cells
................... HP:0007354 Amyotrophic lateral sclerosis

 Sister Nodes: 
..expandAbnormal neuron branching (HP:0500032) 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:0002450HP:0002450Abnormal motor neuron morphology0AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0002450HP:0002450Abnormal motor neuron morphology0ALDH18A1 CL E G H58329722OMIM:601162Spastic paraplegia 9A, autosomal dominant89
HP:0002450HP:0002450Abnormal motor neuron morphology0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0002450HP:0002450Abnormal motor neuron morphology0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosis114
HP:0002450HP:0002450Abnormal motor neuron morphology0ALS2 CL E G H57679443ORPHA:247604Juvenile primary lateral sclerosis114
HP:0002450HP:0002450Abnormal motor neuron morphology0ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile114
HP:0002450HP:0002450Abnormal motor neuron morphology0ALS2 CL E G H57679443OMIM:607225Spastic paralysis, infantile-onset ascending114
HP:0002450HP:0002450Abnormal motor neuron morphology0ANG CL E G H283483ORPHA:803Amyotrophic lateral sclerosis32
HP:0002450HP:0002450Abnormal motor neuron morphology0ANG CL E G H283483OMIM:611895Amyotrophic lateral sclerosis 932
HP:0002450HP:0002450Abnormal motor neuron morphology0ANXA11 CL E G H311535ORPHA:803Amyotrophic lateral sclerosis
HP:0002450HP:0002450Abnormal motor neuron morphology0ANXA11 CL E G H311535OMIM:617839Amyotrophic lateral sclerosis 23
HP:0002450HP:0002450Abnormal motor neuron morphology0ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy78
HP:0002450HP:0002450Abnormal motor neuron morphology0ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndrome78
HP:0002450HP:0002450Abnormal motor neuron morphology0ATXN2 CL E G H631110555ORPHA:803Amyotrophic lateral sclerosis11
HP:0002450HP:0002450Abnormal motor neuron morphology0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 314
HP:0002450HP:0002450Abnormal motor neuron morphology0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4114
HP:0002450HP:0002450Abnormal motor neuron morphology0C9ORF72 CL E G H20322828337ORPHA:803Amyotrophic lateral sclerosis56
HP:0002450HP:0002450Abnormal motor neuron morphology0C9ORF72 CL E G H20322828337OMIM:105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 156
HP:0002450HP:0002450Abnormal motor neuron morphology0C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron disease56
HP:0002450HP:0002450Abnormal motor neuron morphology0C9ORF72 CL E G H20322828337ORPHA:100070Progressive non-fluent aphasia56
HP:0002450HP:0002450Abnormal motor neuron morphology0CCNF CL E G H8991591ORPHA:803Amyotrophic lateral sclerosis
HP:0002450HP:0002450Abnormal motor neuron morphology0CCNF CL E G H8991591OMIM:619141FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0002450HP:0002450Abnormal motor neuron morphology0CEP126 CL E G H5756229264ORPHA:65684Monomelic amyotrophy
HP:0002450HP:0002450Abnormal motor neuron morphology0CFAP410 CL E G H7551260ORPHA:803Amyotrophic lateral sclerosis
HP:0002450HP:0002450Abnormal motor neuron morphology0CHCHD10 CL E G H40091615559ORPHA:803Amyotrophic lateral sclerosis11
HP:0002450HP:0002450Abnormal motor neuron morphology0CHCHD10 CL E G H40091615559OMIM:615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 211
HP:0002450HP:0002450Abnormal motor neuron morphology0CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron disease11
HP:0002450HP:0002450Abnormal motor neuron morphology0CHMP2B CL E G H2597824537ORPHA:803Amyotrophic lateral sclerosis42
HP:0002450HP:0002450Abnormal motor neuron morphology0CHMP2B CL E G H2597824537ORPHA:100070Progressive non-fluent aphasia42
HP:0002450HP:0002450Abnormal motor neuron morphology0CPLANE1 CL E G H6525025801ORPHA:65684Monomelic amyotrophy
HP:0002450HP:0002450Abnormal motor neuron morphology0CYLD CL E G H15402584OMIM:619132FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8126
HP:0002450HP:0002450Abnormal motor neuron morphology0DAO CL E G H16102671ORPHA:803Amyotrophic lateral sclerosis
HP:0002450HP:0002450Abnormal motor neuron morphology0DCTN1 CL E G H16392711ORPHA:803Amyotrophic lateral sclerosis86
HP:0002450HP:0002450Abnormal motor neuron morphology0DCTN1 CL E G H16392711OMIM:105400Amyotrophic lateral sclerosis 186
HP:0002450HP:0002450Abnormal motor neuron morphology0DCTN1 CL E G H16392711OMIM:607641Neuronopathy, distal hereditary motor, type VIIB86
HP:0002450HP:0002450Abnormal motor neuron morphology0EPHA4 CL E G H20433388ORPHA:803Amyotrophic lateral sclerosis4
HP:0002450HP:0002450Abnormal motor neuron morphology0ERBB4 CL E G H20663432ORPHA:803Amyotrophic lateral sclerosis15
HP:0002450HP:0002450Abnormal motor neuron morphology0ERBB4 CL E G H20663432OMIM:615515Amyotrophic lateral sclerosis 1915
HP:0002450HP:0002450Abnormal motor neuron morphology0ERLIN2 CL E G H111601356ORPHA:247604Juvenile primary lateral sclerosis18
HP:0002450HP:0002450Abnormal motor neuron morphology0EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0002450HP:0002450Abnormal motor neuron morphology0EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0002450HP:0002450Abnormal motor neuron morphology0EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0002450HP:0002450Abnormal motor neuron morphology0FIG4 CL E G H989616873ORPHA:803Amyotrophic lateral sclerosis111
HP:0002450HP:0002450Abnormal motor neuron morphology0FIG4 CL E G H989616873OMIM:612577Amyotrophic lateral sclerosis 11111
HP:0002450HP:0002450Abnormal motor neuron morphology0FUS CL E G H25214010ORPHA:803Amyotrophic lateral sclerosis105
HP:0002450HP:0002450Abnormal motor neuron morphology0FUS CL E G H25214010OMIM:608030Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia105
HP:0002450HP:0002450Abnormal motor neuron morphology0FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron disease105
HP:0002450HP:0002450Abnormal motor neuron morphology0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosis105
HP:0002450HP:0002450Abnormal motor neuron morphology0GBE1 CL E G H26324180OMIM:263570Polyglucosan body neuropathy, adult form86
HP:0002450HP:0002450Abnormal motor neuron morphology0GLE1 CL E G H27334315ORPHA:803Amyotrophic lateral sclerosis45
HP:0002450HP:0002450Abnormal motor neuron morphology0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease45
HP:0002450HP:0002450Abnormal motor neuron morphology0GLE1 CL E G H27334315OMIM:253310Lethal congenital contracture syndrome 145
HP:0002450HP:0002450Abnormal motor neuron morphology0GLT8D1 CL E G H5583024870ORPHA:803Amyotrophic lateral sclerosis
HP:0002450HP:0002450Abnormal motor neuron morphology0GRN CL E G H28964601ORPHA:100070Progressive non-fluent aphasia126
HP:0002450HP:0002450Abnormal motor neuron morphology0HNRNPA1 CL E G H31785031ORPHA:803Amyotrophic lateral sclerosis31
HP:0002450HP:0002450Abnormal motor neuron morphology0HNRNPA1 CL E G H31785031OMIM:615426Amyotrophic lateral sclerosis 2031
HP:0002450HP:0002450Abnormal motor neuron morphology0HNRNPA1 CL E G H31785031ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional31
HP:0002450HP:0002450Abnormal motor neuron morphology0HNRNPA2B1 CL E G H31815033ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional5
HP:0002450HP:0002450Abnormal motor neuron morphology0IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1209
HP:0002450HP:0002450Abnormal motor neuron morphology0KIF5A CL E G H37986323OMIM:617921Amyotrophic lateral sclerosis, susceptibility to, 2593
HP:0002450HP:0002450Abnormal motor neuron morphology0MAPT CL E G H41376893OMIM:600274Frontotemporal dementia140
HP:0002450HP:0002450Abnormal motor neuron morphology0MAPT CL E G H41376893ORPHA:100070Progressive non-fluent aphasia140
HP:0002450HP:0002450Abnormal motor neuron morphology0MATR3 CL E G H97826912ORPHA:803Amyotrophic lateral sclerosis80
HP:0002450HP:0002450Abnormal motor neuron morphology0MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 2180
HP:0002450HP:0002450Abnormal motor neuron morphology0MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathy80
HP:0002450HP:0002450Abnormal motor neuron morphology0NEFH CL E G H47447737ORPHA:803Amyotrophic lateral sclerosis24
HP:0002450HP:0002450Abnormal motor neuron morphology0NEFH CL E G H47447737OMIM:105400Amyotrophic lateral sclerosis 124
HP:0002450HP:0002450Abnormal motor neuron morphology0NEK1 CL E G H47507744ORPHA:803Amyotrophic lateral sclerosis101
HP:0002450HP:0002450Abnormal motor neuron morphology0NEK1 CL E G H47507744OMIM:617892Amyotrophic lateral sclerosis, susceptibility to, 24101
HP:0002450HP:0002450Abnormal motor neuron morphology0OPTN CL E G H1013317142ORPHA:803Amyotrophic lateral sclerosis62
HP:0002450HP:0002450Abnormal motor neuron morphology0OPTN CL E G H1013317142OMIM:613435Amyotrophic lateral sclerosis 1262
HP:0002450HP:0002450Abnormal motor neuron morphology0PFN1 CL E G H52168881ORPHA:803Amyotrophic lateral sclerosis6
HP:0002450HP:0002450Abnormal motor neuron morphology0PFN1 CL E G H52168881OMIM:614808AMYOTROPHIC LATERAL SCLEROSIS 18; ALS186
HP:0002450HP:0002450Abnormal motor neuron morphology0PLEKHG5 CL E G H5744929105OMIM:611067Spinal muscular atrophy, distal, autosomal recessive, 4186
HP:0002450HP:0002450Abnormal motor neuron morphology0PNPLA6 CL E G H1090816268OMIM:215470Boucher-Neuhauser syndrome103
HP:0002450HP:0002450Abnormal motor neuron morphology0PON1 CL E G H54449204ORPHA:803Amyotrophic lateral sclerosis4
HP:0002450HP:0002450Abnormal motor neuron morphology0PON2 CL E G H54459205ORPHA:803Amyotrophic lateral sclerosis2
HP:0002450HP:0002450Abnormal motor neuron morphology0PON3 CL E G H54469206ORPHA:803Amyotrophic lateral sclerosis1
HP:0002450HP:0002450Abnormal motor neuron morphology0PPARGC1A CL E G H108919237ORPHA:803Amyotrophic lateral sclerosis1
HP:0002450HP:0002450Abnormal motor neuron morphology0PRPH CL E G H56309461ORPHA:803Amyotrophic lateral sclerosis25
HP:0002450HP:0002450Abnormal motor neuron morphology0PRPH CL E G H56309461OMIM:105400Amyotrophic lateral sclerosis 125
HP:0002450HP:0002450Abnormal motor neuron morphology0PSEN1 CL E G H56639508OMIM:600274Frontotemporal dementia241
HP:0002450HP:0002450Abnormal motor neuron morphology0PSEN1 CL E G H56639508ORPHA:100070Progressive non-fluent aphasia241
HP:0002450HP:0002450Abnormal motor neuron morphology0RBM28 CL E G H5513121863ORPHA:157954ANE syndrome1
HP:0002450HP:0002450Abnormal motor neuron morphology0SCP2 CL E G H634210606OMIM:613724Leukoencephalopathy with dystonia and motor neuropathy.4
HP:0002450HP:0002450Abnormal motor neuron morphology0SETX CL E G H23064445OMIM:602433Amyotrophic lateral sclerosis 4, juvenile162
HP:0002450HP:0002450Abnormal motor neuron morphology0SIGMAR1 CL E G H102808157OMIM:614373Amyotrophic lateral sclerosis 16, juvenile6
HP:0002450HP:0002450Abnormal motor neuron morphology0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosis6
HP:0002450HP:0002450Abnormal motor neuron morphology0SLC25A46 CL E G H9113725198ORPHA:2254Pontocerebellar hypoplasia type 114
HP:0002450HP:0002450Abnormal motor neuron morphology0SMN1 CL E G H660611117OMIM:253550Spinal muscular atrophy, type II22
HP:0002450HP:0002450Abnormal motor neuron morphology0SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III22
HP:0002450HP:0002450Abnormal motor neuron morphology0SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV22
HP:0002450HP:0002450Abnormal motor neuron morphology0SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III1
HP:0002450HP:0002450Abnormal motor neuron morphology0SOD1 CL E G H664711179ORPHA:803Amyotrophic lateral sclerosis53
HP:0002450HP:0002450Abnormal motor neuron morphology0SOD1 CL E G H664711179OMIM:105400Amyotrophic lateral sclerosis 153
HP:0002450HP:0002450Abnormal motor neuron morphology0SPG11 CL E G H8020811226OMIM:602099Amyotrophic lateral sclerosis 5, juvenile287
HP:0002450HP:0002450Abnormal motor neuron morphology0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosis287
HP:0002450HP:0002450Abnormal motor neuron morphology0SPG7 CL E G H668711237ORPHA:35689Primary lateral sclerosis171
HP:0002450HP:0002450Abnormal motor neuron morphology0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosis54
HP:0002450HP:0002450Abnormal motor neuron morphology0SQSTM1 CL E G H887811280ORPHA:803Amyotrophic lateral sclerosis62
HP:0002450HP:0002450Abnormal motor neuron morphology0SQSTM1 CL E G H887811280OMIM:616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 362
HP:0002450HP:0002450Abnormal motor neuron morphology0SQSTM1 CL E G H887811280ORPHA:275872Frontotemporal dementia with motor neuron disease62
HP:0002450HP:0002450Abnormal motor neuron morphology0TAF15 CL E G H814811547ORPHA:803Amyotrophic lateral sclerosis
HP:0002450HP:0002450Abnormal motor neuron morphology0TARDBP CL E G H2343511571ORPHA:803Amyotrophic lateral sclerosis65
HP:0002450HP:0002450Abnormal motor neuron morphology0TARDBP CL E G H2343511571OMIM:612069Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia65
HP:0002450HP:0002450Abnormal motor neuron morphology0TARDBP CL E G H2343511571ORPHA:275872Frontotemporal dementia with motor neuron disease65
HP:0002450HP:0002450Abnormal motor neuron morphology0TBK1 CL E G H2911011584ORPHA:803Amyotrophic lateral sclerosis20
HP:0002450HP:0002450Abnormal motor neuron morphology0TBK1 CL E G H2911011584OMIM:616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 420
HP:0002450HP:0002450Abnormal motor neuron morphology0TBK1 CL E G H2911011584ORPHA:275872Frontotemporal dementia with motor neuron disease20
HP:0002450HP:0002450Abnormal motor neuron morphology0TFG CL E G H1034211758OMIM:604484Neuropathy, hereditary motor and sensory, Okinawa type18
HP:0002450HP:0002450Abnormal motor neuron morphology0TIA1 CL E G H707211802OMIM:619133AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS265
HP:0002450HP:0002450Abnormal motor neuron morphology0TMEM106B CL E G H5466422407ORPHA:100070Progressive non-fluent aphasia
HP:0002450HP:0002450Abnormal motor neuron morphology0TREM2 CL E G H5420917761ORPHA:803Amyotrophic lateral sclerosis31
HP:0002450HP:0002450Abnormal motor neuron morphology0TREM2 CL E G H5420917761ORPHA:100070Progressive non-fluent aphasia31
HP:0002450HP:0002450Abnormal motor neuron morphology0TRPM7 CL E G H5482217994OMIM:105500Amyotrophic lateral sclerosis-parkinsonism/dementia complex 12
HP:0002450HP:0002450Abnormal motor neuron morphology0TUBA4A CL E G H727712407OMIM:616208Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia6
HP:0002450HP:0002450Abnormal motor neuron morphology0TYROBP CL E G H730512449OMIM:221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy22
HP:0002450HP:0002450Abnormal motor neuron morphology0UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophy35
HP:0002450HP:0002450Abnormal motor neuron morphology0UBA1 CL E G H731712469OMIM:301830Spinal muscular atrophy, X-linked 235
HP:0002450HP:0002450Abnormal motor neuron morphology0UBQLN2 CL E G H2997812509ORPHA:803Amyotrophic lateral sclerosis20
HP:0002450HP:0002450Abnormal motor neuron morphology0UBQLN2 CL E G H2997812509OMIM:300857Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia20
HP:0002450HP:0002450Abnormal motor neuron morphology0UNC13A CL E G H2302523150ORPHA:803Amyotrophic lateral sclerosis1
HP:0002450HP:0002450Abnormal motor neuron morphology0VAPB CL E G H921712649ORPHA:803Amyotrophic lateral sclerosis116
HP:0002450HP:0002450Abnormal motor neuron morphology0VAPB CL E G H921712649OMIM:608627Amyotrophic lateral sclerosis 8116
HP:0002450HP:0002450Abnormal motor neuron morphology0VCP CL E G H741512666ORPHA:803Amyotrophic lateral sclerosis63
HP:0002450HP:0002450Abnormal motor neuron morphology0VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0002450HP:0002450Abnormal motor neuron morphology0VCP CL E G H741512666ORPHA:275872Frontotemporal dementia with motor neuron disease63
HP:0002450HP:0002450Abnormal motor neuron morphology0VCP CL E G H741512666ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional63
HP:0002450HP:0002450Abnormal motor neuron morphology0VCP CL E G H741512666ORPHA:100070Progressive non-fluent aphasia63
HP:0002450HP:0002450Abnormal motor neuron morphology0VPS13D CL E G H5518723595ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndrome
HP:0002450HP:0002450Abnormal motor neuron morphology0VPS41 CL E G H2707212713ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndrome
HP:0002450HP:0002450Abnormal motor neuron morphology0VRK1 CL E G H744312718ORPHA:2254Pontocerebellar hypoplasia type 132
HP:0002450HP:0002450Abnormal motor neuron morphology0VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A32
HP:0002450HP:0006802Abnormal anterior horn cell morphology1AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0002450HP:0007373Motor neuron atrophy1AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0002450HP:0002127Abnormal upper motor neuron morphology1ALDH18A1 CL E G H58329722OMIM:601162Spastic paraplegia 9A, autosomal dominant.89
HP:0002450HP:0002127Abnormal upper motor neuron morphology1ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile.114
HP:0002450HP:0007373Motor neuron atrophy1ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0002450HP:0002366Abnormal lower motor neuron morphology1ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile.114
HP:0002450HP:0007373Motor neuron atrophy1ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosis114
HP:0002450HP:0002127Abnormal upper motor neuron morphology1ALS2 CL E G H57679443ORPHA:247604Juvenile primary lateral sclerosisHP:0040281 - Very frequent114
HP:0002450HP:0002127Abnormal upper motor neuron morphology1ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile.114
HP:0002450HP:0002366Abnormal lower motor neuron morphology1ALS2 CL E G H57679443OMIM:607225Spastic paralysis, infantile-onset ascending.114
HP:0002450HP:0007373Motor neuron atrophy1ANG CL E G H283483ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent32
HP:0002450HP:0007373Motor neuron atrophy1ANG CL E G H283483OMIM:611895Amyotrophic lateral sclerosis 932
HP:0002450HP:0007373Motor neuron atrophy1ANXA11 CL E G H311535ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent
HP:0002450HP:0006802Abnormal anterior horn cell morphology1ANXA11 CL E G H311535OMIM:617839Amyotrophic lateral sclerosis 23
HP:0002450HP:0007373Motor neuron atrophy1ANXA11 CL E G H311535OMIM:617839Amyotrophic lateral sclerosis 23
HP:0002450HP:0006802Abnormal anterior horn cell morphology1ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy78
HP:0002450HP:0007373Motor neuron atrophy1ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy78
HP:0002450HP:0002366Abnormal lower motor neuron morphology1ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndromeHP:0040281 - Very frequent78
HP:0002450HP:0007373Motor neuron atrophy1ATXN2 CL E G H631110555ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent11
HP:0002450HP:0006802Abnormal anterior horn cell morphology1ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 314
HP:0002450HP:0002366Abnormal lower motor neuron morphology1ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040282 - Frequent14
HP:0002450HP:0007373Motor neuron atrophy1ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 314
HP:0002450HP:0002366Abnormal lower motor neuron morphology1C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4.HP:0003584 - Late onset114
HP:0002450HP:0007373Motor neuron atrophy1C9ORF72 CL E G H20322828337ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent56
HP:0002450HP:0002366Abnormal lower motor neuron morphology1C9ORF72 CL E G H20322828337OMIM:105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1.56
HP:0002450HP:0007373Motor neuron atrophy1C9ORF72 CL E G H20322828337OMIM:105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 156
HP:0002450HP:0002366Abnormal lower motor neuron morphology1C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040281 - Very frequent56
HP:0002450HP:0002127Abnormal upper motor neuron morphology1C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040281 - Very frequent56
HP:0002450HP:0002366Abnormal lower motor neuron morphology1C9ORF72 CL E G H20322828337ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional56
HP:0002450HP:0007373Motor neuron atrophy1CCNF CL E G H8991591ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent
HP:0002450HP:0007373Motor neuron atrophy1CCNF CL E G H8991591OMIM:619141FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0002450HP:0007373Motor neuron atrophy1CEP126 CL E G H5756229264ORPHA:65684Monomelic amyotrophy
HP:0002450HP:0006802Abnormal anterior horn cell morphology1CEP126 CL E G H5756229264ORPHA:65684Monomelic amyotrophy
HP:0002450HP:0007373Motor neuron atrophy1CFAP410 CL E G H7551260ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent
HP:0002450HP:0007373Motor neuron atrophy1CHCHD10 CL E G H40091615559ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent11
HP:0002450HP:0007373Motor neuron atrophy1CHCHD10 CL E G H40091615559OMIM:615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 211
HP:0002450HP:0002127Abnormal upper motor neuron morphology1CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040281 - Very frequent11
HP:0002450HP:0002366Abnormal lower motor neuron morphology1CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040281 - Very frequent11
HP:0002450HP:0007373Motor neuron atrophy1CHMP2B CL E G H2597824537ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent42
HP:0002450HP:0002366Abnormal lower motor neuron morphology1CHMP2B CL E G H2597824537ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional42
HP:0002450HP:0007373Motor neuron atrophy1CPLANE1 CL E G H6525025801ORPHA:65684Monomelic amyotrophy
HP:0002450HP:0006802Abnormal anterior horn cell morphology1CPLANE1 CL E G H6525025801ORPHA:65684Monomelic amyotrophy
HP:0002450HP:0007373Motor neuron atrophy1CYLD CL E G H15402584OMIM:619132FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8126
HP:0002450HP:0007373Motor neuron atrophy1DAO CL E G H16102671ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent
HP:0002450HP:0007373Motor neuron atrophy1DCTN1 CL E G H16392711ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent86
HP:0002450HP:0007373Motor neuron atrophy1DCTN1 CL E G H16392711OMIM:105400Amyotrophic lateral sclerosis 186
HP:0002450HP:0006802Abnormal anterior horn cell morphology1DCTN1 CL E G H16392711OMIM:105400Amyotrophic lateral sclerosis 186
HP:0002450HP:0002366Abnormal lower motor neuron morphology1DCTN1 CL E G H16392711OMIM:607641Neuronopathy, distal hereditary motor, type VIIB.86
HP:0002450HP:0007373Motor neuron atrophy1EPHA4 CL E G H20433388ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent4
HP:0002450HP:0007373Motor neuron atrophy1ERBB4 CL E G H20663432ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent15
HP:0002450HP:0007373Motor neuron atrophy1ERBB4 CL E G H20663432OMIM:615515Amyotrophic lateral sclerosis 1915
HP:0002450HP:0002127Abnormal upper motor neuron morphology1ERLIN2 CL E G H111601356ORPHA:247604Juvenile primary lateral sclerosisHP:0040281 - Very frequent18
HP:0002450HP:0006802Abnormal anterior horn cell morphology1EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0002450HP:0007373Motor neuron atrophy1EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0002450HP:0007373Motor neuron atrophy1EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0002450HP:0006802Abnormal anterior horn cell morphology1EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0002450HP:0007373Motor neuron atrophy1EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0002450HP:0006802Abnormal anterior horn cell morphology1EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0002450HP:0007373Motor neuron atrophy1FIG4 CL E G H989616873ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent111
HP:0002450HP:0007373Motor neuron atrophy1FIG4 CL E G H989616873OMIM:612577Amyotrophic lateral sclerosis 11111
HP:0002450HP:0007373Motor neuron atrophy1FUS CL E G H25214010ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent105
HP:0002450HP:0007373Motor neuron atrophy1FUS CL E G H25214010OMIM:608030Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia105
HP:0002450HP:0002366Abnormal lower motor neuron morphology1FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040281 - Very frequent105
HP:0002450HP:0002127Abnormal upper motor neuron morphology1FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040281 - Very frequent105
HP:0002450HP:0007373Motor neuron atrophy1FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosis105
HP:0002450HP:0002127Abnormal upper motor neuron morphology1GBE1 CL E G H26324180OMIM:263570Polyglucosan body neuropathy, adult form.86
HP:0002450HP:0007373Motor neuron atrophy1GLE1 CL E G H27334315ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent45
HP:0002450HP:0007277Paucity of anterior horn motor neurons1GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0002450HP:0006802Abnormal anterior horn cell morphology1GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0002450HP:0007277Paucity of anterior horn motor neurons1GLE1 CL E G H27334315OMIM:253310Lethal congenital contracture syndrome 1.45
HP:0002450HP:0007373Motor neuron atrophy1GLT8D1 CL E G H5583024870ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent
HP:0002450HP:0002366Abnormal lower motor neuron morphology1GRN CL E G H28964601ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional126
HP:0002450HP:0007373Motor neuron atrophy1HNRNPA1 CL E G H31785031ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent31
HP:0002450HP:0007373Motor neuron atrophy1HNRNPA1 CL E G H31785031OMIM:615426Amyotrophic lateral sclerosis 2031
HP:0002450HP:0007373Motor neuron atrophy1HNRNPA1 CL E G H31785031ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementia31
HP:0002450HP:0007373Motor neuron atrophy1HNRNPA2B1 CL E G H31815033ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementia5
HP:0002450HP:0006802Abnormal anterior horn cell morphology1IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1209
HP:0002450HP:0007373Motor neuron atrophy1IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1209
HP:0002450HP:0007373Motor neuron atrophy1KIF5A CL E G H37986323OMIM:617921Amyotrophic lateral sclerosis, susceptibility to, 2593
HP:0002450HP:0007373Motor neuron atrophy1MAPT CL E G H41376893OMIM:600274Frontotemporal dementia140
HP:0002450HP:0002366Abnormal lower motor neuron morphology1MAPT CL E G H41376893ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional140
HP:0002450HP:0007373Motor neuron atrophy1MATR3 CL E G H97826912ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent80
HP:0002450HP:0002366Abnormal lower motor neuron morphology1MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 21.80
HP:0002450HP:0002127Abnormal upper motor neuron morphology1MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 21.80
HP:0002450HP:0007373Motor neuron atrophy1MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 2180
HP:0002450HP:0007373Motor neuron atrophy1MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathy80
HP:0002450HP:0007373Motor neuron atrophy1NEFH CL E G H47447737ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent24
HP:0002450HP:0007373Motor neuron atrophy1NEFH CL E G H47447737OMIM:105400Amyotrophic lateral sclerosis 124
HP:0002450HP:0006802Abnormal anterior horn cell morphology1NEFH CL E G H47447737OMIM:105400Amyotrophic lateral sclerosis 124
HP:0002450HP:0007373Motor neuron atrophy1NEK1 CL E G H47507744ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent101
HP:0002450HP:0007373Motor neuron atrophy1NEK1 CL E G H47507744OMIM:617892Amyotrophic lateral sclerosis, susceptibility to, 24101
HP:0002450HP:0007373Motor neuron atrophy1OPTN CL E G H1013317142ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent62
HP:0002450HP:0007373Motor neuron atrophy1OPTN CL E G H1013317142OMIM:613435Amyotrophic lateral sclerosis 1262
HP:0002450HP:0007373Motor neuron atrophy1PFN1 CL E G H52168881ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent6
HP:0002450HP:0007373Motor neuron atrophy1PFN1 CL E G H52168881OMIM:614808AMYOTROPHIC LATERAL SCLEROSIS 18; ALS186
HP:0002450HP:0002366Abnormal lower motor neuron morphology1PLEKHG5 CL E G H5744929105OMIM:611067Spinal muscular atrophy, distal, autosomal recessive, 4.186
HP:0002450HP:0002127Abnormal upper motor neuron morphology1PNPLA6 CL E G H1090816268OMIM:215470Boucher-Neuhauser syndromeHP:0040283 - Occasional103
HP:0002450HP:0007373Motor neuron atrophy1PON1 CL E G H54449204ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent4
HP:0002450HP:0007373Motor neuron atrophy1PON2 CL E G H54459205ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent2
HP:0002450HP:0007373Motor neuron atrophy1PON3 CL E G H54469206ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent1
HP:0002450HP:0007373Motor neuron atrophy1PPARGC1A CL E G H108919237ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent1
HP:0002450HP:0007373Motor neuron atrophy1PRPH CL E G H56309461ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent25
HP:0002450HP:0007373Motor neuron atrophy1PRPH CL E G H56309461OMIM:105400Amyotrophic lateral sclerosis 125
HP:0002450HP:0006802Abnormal anterior horn cell morphology1PRPH CL E G H56309461OMIM:105400Amyotrophic lateral sclerosis 125
HP:0002450HP:0007373Motor neuron atrophy1PSEN1 CL E G H56639508OMIM:600274Frontotemporal dementia241
HP:0002450HP:0002366Abnormal lower motor neuron morphology1PSEN1 CL E G H56639508ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional241
HP:0002450HP:0007373Motor neuron atrophy1RBM28 CL E G H5513121863ORPHA:157954ANE syndromeHP:0040282 - Frequent1
HP:0002450HP:0002366Abnormal lower motor neuron morphology1SETX CL E G H23064445OMIM:602433Amyotrophic lateral sclerosis 4, juvenile.162
HP:0002450HP:0006802Abnormal anterior horn cell morphology1SETX CL E G H23064445OMIM:602433Amyotrophic lateral sclerosis 4, juvenile162
HP:0002450HP:0007373Motor neuron atrophy1SETX CL E G H23064445OMIM:602433Amyotrophic lateral sclerosis 4, juvenile162
HP:0002450HP:0002366Abnormal lower motor neuron morphology1SIGMAR1 CL E G H102808157OMIM:614373Amyotrophic lateral sclerosis 16, juvenile.6
HP:0002450HP:0007373Motor neuron atrophy1SIGMAR1 CL E G H102808157OMIM:614373Amyotrophic lateral sclerosis 16, juvenile6
HP:0002450HP:0002127Abnormal upper motor neuron morphology1SIGMAR1 CL E G H102808157OMIM:614373Amyotrophic lateral sclerosis 16, juvenile.6
HP:0002450HP:0007373Motor neuron atrophy1SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosis6
HP:0002450HP:0007373Motor neuron atrophy1SLC25A46 CL E G H9113725198ORPHA:2254Pontocerebellar hypoplasia type 114
HP:0002450HP:0006802Abnormal anterior horn cell morphology1SLC25A46 CL E G H9113725198ORPHA:2254Pontocerebellar hypoplasia type 114
HP:0002450HP:0007373Motor neuron atrophy1SMN1 CL E G H660611117OMIM:253550Spinal muscular atrophy, type II22
HP:0002450HP:0006802Abnormal anterior horn cell morphology1SMN1 CL E G H660611117OMIM:253550Spinal muscular atrophy, type II22
HP:0002450HP:0006802Abnormal anterior horn cell morphology1SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III22
HP:0002450HP:0007373Motor neuron atrophy1SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III22
HP:0002450HP:0007373Motor neuron atrophy1SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV22
HP:0002450HP:0006802Abnormal anterior horn cell morphology1SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV22
HP:0002450HP:0007373Motor neuron atrophy1SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III1
HP:0002450HP:0006802Abnormal anterior horn cell morphology1SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III1
HP:0002450HP:0007373Motor neuron atrophy1SOD1 CL E G H664711179ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent53
HP:0002450HP:0007373Motor neuron atrophy1SOD1 CL E G H664711179OMIM:105400Amyotrophic lateral sclerosis 153
HP:0002450HP:0006802Abnormal anterior horn cell morphology1SOD1 CL E G H664711179OMIM:105400Amyotrophic lateral sclerosis 153
HP:0002450HP:0002366Abnormal lower motor neuron morphology1SPG11 CL E G H8020811226OMIM:602099Amyotrophic lateral sclerosis 5, juvenile.287
HP:0002450HP:0007373Motor neuron atrophy1SPG11 CL E G H8020811226OMIM:602099Amyotrophic lateral sclerosis 5, juvenile287
HP:0002450HP:0007373Motor neuron atrophy1SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosis287
HP:0002450HP:0002127Abnormal upper motor neuron morphology1SPG7 CL E G H668711237ORPHA:35689Primary lateral sclerosisHP:0040281 - Very frequent171
HP:0002450HP:0007373Motor neuron atrophy1SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosis54
HP:0002450HP:0007373Motor neuron atrophy1SQSTM1 CL E G H887811280ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent62
HP:0002450HP:0002366Abnormal lower motor neuron morphology1SQSTM1 CL E G H887811280OMIM:616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3.62
HP:0002450HP:0007373Motor neuron atrophy1SQSTM1 CL E G H887811280OMIM:616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 362
HP:0002450HP:0002127Abnormal upper motor neuron morphology1SQSTM1 CL E G H887811280ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040281 - Very frequent62
HP:0002450HP:0002366Abnormal lower motor neuron morphology1SQSTM1 CL E G H887811280ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040281 - Very frequent62
HP:0002450HP:0007373Motor neuron atrophy1TAF15 CL E G H814811547ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent
HP:0002450HP:0007373Motor neuron atrophy1TARDBP CL E G H2343511571ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent65
HP:0002450HP:0007373Motor neuron atrophy1TARDBP CL E G H2343511571OMIM:612069Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia65
HP:0002450HP:0002127Abnormal upper motor neuron morphology1TARDBP CL E G H2343511571ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040281 - Very frequent65
HP:0002450HP:0002366Abnormal lower motor neuron morphology1TARDBP CL E G H2343511571ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040281 - Very frequent65
HP:0002450HP:0007373Motor neuron atrophy1TBK1 CL E G H2911011584ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent20
HP:0002450HP:0007373Motor neuron atrophy1TBK1 CL E G H2911011584OMIM:616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 420
HP:0002450HP:0002366Abnormal lower motor neuron morphology1TBK1 CL E G H2911011584OMIM:616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4.20
HP:0002450HP:0002127Abnormal upper motor neuron morphology1TBK1 CL E G H2911011584ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040281 - Very frequent20
HP:0002450HP:0002366Abnormal lower motor neuron morphology1TBK1 CL E G H2911011584ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040281 - Very frequent20
HP:0002450HP:0006802Abnormal anterior horn cell morphology1TFG CL E G H1034211758OMIM:604484Neuropathy, hereditary motor and sensory, Okinawa type18
HP:0002450HP:0007373Motor neuron atrophy1TFG CL E G H1034211758OMIM:604484Neuropathy, hereditary motor and sensory, Okinawa type18
HP:0002450HP:0007373Motor neuron atrophy1TIA1 CL E G H707211802OMIM:619133AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS265
HP:0002450HP:0002366Abnormal lower motor neuron morphology1TMEM106B CL E G H5466422407ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional
HP:0002450HP:0007373Motor neuron atrophy1TREM2 CL E G H5420917761ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent31
HP:0002450HP:0002366Abnormal lower motor neuron morphology1TREM2 CL E G H5420917761ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional31
HP:0002450HP:0002366Abnormal lower motor neuron morphology1TRPM7 CL E G H5482217994OMIM:105500Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1.2
HP:0002450HP:0007373Motor neuron atrophy1TRPM7 CL E G H5482217994OMIM:105500Amyotrophic lateral sclerosis-parkinsonism/dementia complex 12
HP:0002450HP:0007373Motor neuron atrophy1TUBA4A CL E G H727712407OMIM:616208Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia6
HP:0002450HP:0002127Abnormal upper motor neuron morphology1TYROBP CL E G H730512449OMIM:221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy.22
HP:0002450HP:0006802Abnormal anterior horn cell morphology1UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophyHP:0040281 - Very frequent35
HP:0002450HP:0007373Motor neuron atrophy1UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophy35
HP:0002450HP:0007373Motor neuron atrophy1UBA1 CL E G H731712469OMIM:301830Spinal muscular atrophy, X-linked 235
HP:0002450HP:0006802Abnormal anterior horn cell morphology1UBA1 CL E G H731712469OMIM:301830Spinal muscular atrophy, X-linked 235
HP:0002450HP:0007373Motor neuron atrophy1UBQLN2 CL E G H2997812509ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent20
HP:0002450HP:0007373Motor neuron atrophy1UBQLN2 CL E G H2997812509OMIM:300857Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia20
HP:0002450HP:0007373Motor neuron atrophy1UNC13A CL E G H2302523150ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent1
HP:0002450HP:0007373Motor neuron atrophy1VAPB CL E G H921712649ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent116
HP:0002450HP:0007373Motor neuron atrophy1VAPB CL E G H921712649OMIM:608627Amyotrophic lateral sclerosis 8116
HP:0002450HP:0007373Motor neuron atrophy1VCP CL E G H741512666ORPHA:803Amyotrophic lateral sclerosisHP:0040281 - Very frequent63
HP:0002450HP:0007373Motor neuron atrophy1VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0002450HP:0002366Abnormal lower motor neuron morphology1VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0002450HP:0002127Abnormal upper motor neuron morphology1VCP CL E G H741512666ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040281 - Very frequent63
HP:0002450HP:0002366Abnormal lower motor neuron morphology1VCP CL E G H741512666ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040281 - Very frequent63
HP:0002450HP:0007373Motor neuron atrophy1VCP CL E G H741512666ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementia63
HP:0002450HP:0002366Abnormal lower motor neuron morphology1VCP CL E G H741512666ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional63
HP:0002450HP:0002366Abnormal lower motor neuron morphology1VPS13D CL E G H5518723595ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndromeHP:0040281 - Very frequent
HP:0002450HP:0002366Abnormal lower motor neuron morphology1VPS41 CL E G H2707212713ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndromeHP:0040281 - Very frequent
HP:0002450HP:0007373Motor neuron atrophy1VRK1 CL E G H744312718ORPHA:2254Pontocerebellar hypoplasia type 132
HP:0002450HP:0006802Abnormal anterior horn cell morphology1VRK1 CL E G H744312718ORPHA:2254Pontocerebellar hypoplasia type 132
HP:0002450HP:0006802Abnormal anterior horn cell morphology1VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A32
HP:0002450HP:0007373Motor neuron atrophy1VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A32
HP:0002450HP:0002398Degeneration of anterior horn cells2AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0002450HP:0007354Amyotrophic lateral sclerosis2ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile.114
HP:0002450HP:0007354Amyotrophic lateral sclerosis2ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040281 - Very frequent114
HP:0002450HP:0007354Amyotrophic lateral sclerosis2ANG CL E G H283483ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate32
HP:0002450HP:0007354Amyotrophic lateral sclerosis2ANG CL E G H283483OMIM:611895Amyotrophic lateral sclerosis 9.32
HP:0002450HP:0007354Amyotrophic lateral sclerosis2ANXA11 CL E G H311535ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate
HP:0002450HP:0007354Amyotrophic lateral sclerosis2ANXA11 CL E G H311535OMIM:617839Amyotrophic lateral sclerosis 23.
HP:0002450HP:0002398Degeneration of anterior horn cells2ANXA11 CL E G H311535OMIM:617839Amyotrophic lateral sclerosis 23
HP:0002450HP:0002398Degeneration of anterior horn cells2ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy.78
HP:0002450HP:0007354Amyotrophic lateral sclerosis2ATXN2 CL E G H631110555ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate11
HP:0002450HP:0002398Degeneration of anterior horn cells2ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040282 - Frequent14
HP:0002450HP:0007354Amyotrophic lateral sclerosis2C9ORF72 CL E G H20322828337ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate56
HP:0002450HP:0007354Amyotrophic lateral sclerosis2C9ORF72 CL E G H20322828337OMIM:105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1.56
HP:0002450HP:0007354Amyotrophic lateral sclerosis2CCNF CL E G H8991591ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate
HP:0002450HP:0007354Amyotrophic lateral sclerosis2CCNF CL E G H8991591OMIM:619141FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0002450HP:0002398Degeneration of anterior horn cells2CEP126 CL E G H5756229264ORPHA:65684Monomelic amyotrophyHP:0040282 - Frequent
HP:0002450HP:0007354Amyotrophic lateral sclerosis2CFAP410 CL E G H7551260ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate
HP:0002450HP:0007354Amyotrophic lateral sclerosis2CHCHD10 CL E G H40091615559ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate11
HP:0002450HP:0007354Amyotrophic lateral sclerosis2CHCHD10 CL E G H40091615559OMIM:615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2.11
HP:0002450HP:0007354Amyotrophic lateral sclerosis2CHMP2B CL E G H2597824537ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate42
HP:0002450HP:0002398Degeneration of anterior horn cells2CPLANE1 CL E G H6525025801ORPHA:65684Monomelic amyotrophyHP:0040282 - Frequent
HP:0002450HP:0007354Amyotrophic lateral sclerosis2CYLD CL E G H15402584OMIM:619132FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8126
HP:0002450HP:0007354Amyotrophic lateral sclerosis2DAO CL E G H16102671ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate
HP:0002450HP:0007354Amyotrophic lateral sclerosis2DCTN1 CL E G H16392711ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate86
HP:0002450HP:0002398Degeneration of anterior horn cells2DCTN1 CL E G H16392711OMIM:105400Amyotrophic lateral sclerosis 1.86
HP:0002450HP:0007354Amyotrophic lateral sclerosis2DCTN1 CL E G H16392711OMIM:105400Amyotrophic lateral sclerosis 186
HP:0002450HP:0007354Amyotrophic lateral sclerosis2EPHA4 CL E G H20433388ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate4
HP:0002450HP:0007354Amyotrophic lateral sclerosis2ERBB4 CL E G H20663432ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate15
HP:0002450HP:0007354Amyotrophic lateral sclerosis2ERBB4 CL E G H20663432OMIM:615515Amyotrophic lateral sclerosis 19.15
HP:0002450HP:0002398Degeneration of anterior horn cells2EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0002450HP:0002398Degeneration of anterior horn cells2EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0002450HP:0002398Degeneration of anterior horn cells2EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0002450HP:0007354Amyotrophic lateral sclerosis2FIG4 CL E G H989616873ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate111
HP:0002450HP:0007354Amyotrophic lateral sclerosis2FIG4 CL E G H989616873OMIM:612577Amyotrophic lateral sclerosis 11111
HP:0002450HP:0007354Amyotrophic lateral sclerosis2FUS CL E G H25214010ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate105
HP:0002450HP:0007354Amyotrophic lateral sclerosis2FUS CL E G H25214010OMIM:608030Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia.105
HP:0002450HP:0007354Amyotrophic lateral sclerosis2FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040281 - Very frequent105
HP:0002450HP:0007354Amyotrophic lateral sclerosis2GLE1 CL E G H27334315ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate45
HP:0002450HP:0007354Amyotrophic lateral sclerosis2GLT8D1 CL E G H5583024870ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate
HP:0002450HP:0007354Amyotrophic lateral sclerosis2HNRNPA1 CL E G H31785031ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate31
HP:0002450HP:0007354Amyotrophic lateral sclerosis2HNRNPA1 CL E G H31785031OMIM:615426Amyotrophic lateral sclerosis 20.31
HP:0002450HP:0007354Amyotrophic lateral sclerosis2HNRNPA1 CL E G H31785031ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional31
HP:0002450HP:0007354Amyotrophic lateral sclerosis2HNRNPA2B1 CL E G H31815033ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional5
HP:0002450HP:0002398Degeneration of anterior horn cells2IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1.209
HP:0002450HP:0007354Amyotrophic lateral sclerosis2KIF5A CL E G H37986323OMIM:617921Amyotrophic lateral sclerosis, susceptibility to, 25.93
HP:0002450HP:0007354Amyotrophic lateral sclerosis2MAPT CL E G H41376893OMIM:600274Frontotemporal dementia.140
HP:0002450HP:0007354Amyotrophic lateral sclerosis2MATR3 CL E G H97826912ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate80
HP:0002450HP:0007354Amyotrophic lateral sclerosis2MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 21.80
HP:0002450HP:0007354Amyotrophic lateral sclerosis2MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathyHP:0040282 - Frequent80
HP:0002450HP:0007354Amyotrophic lateral sclerosis2NEFH CL E G H47447737ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate24
HP:0002450HP:0002398Degeneration of anterior horn cells2NEFH CL E G H47447737OMIM:105400Amyotrophic lateral sclerosis 1.24
HP:0002450HP:0007354Amyotrophic lateral sclerosis2NEFH CL E G H47447737OMIM:105400Amyotrophic lateral sclerosis 124
HP:0002450HP:0007354Amyotrophic lateral sclerosis2NEK1 CL E G H47507744ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate101
HP:0002450HP:0007354Amyotrophic lateral sclerosis2NEK1 CL E G H47507744OMIM:617892Amyotrophic lateral sclerosis, susceptibility to, 24101
HP:0002450HP:0007354Amyotrophic lateral sclerosis2OPTN CL E G H1013317142ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate62
HP:0002450HP:0007354Amyotrophic lateral sclerosis2OPTN CL E G H1013317142OMIM:613435Amyotrophic lateral sclerosis 12.62
HP:0002450HP:0007354Amyotrophic lateral sclerosis2PFN1 CL E G H52168881ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate6
HP:0002450HP:0007354Amyotrophic lateral sclerosis2PFN1 CL E G H52168881OMIM:614808AMYOTROPHIC LATERAL SCLEROSIS 18; ALS186
HP:0002450HP:0007354Amyotrophic lateral sclerosis2PON1 CL E G H54449204ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate4
HP:0002450HP:0007354Amyotrophic lateral sclerosis2PON2 CL E G H54459205ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate2
HP:0002450HP:0007354Amyotrophic lateral sclerosis2PON3 CL E G H54469206ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate1
HP:0002450HP:0007354Amyotrophic lateral sclerosis2PPARGC1A CL E G H108919237ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate1
HP:0002450HP:0007354Amyotrophic lateral sclerosis2PRPH CL E G H56309461ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate25
HP:0002450HP:0002398Degeneration of anterior horn cells2PRPH CL E G H56309461OMIM:105400Amyotrophic lateral sclerosis 1.25
HP:0002450HP:0007354Amyotrophic lateral sclerosis2PRPH CL E G H56309461OMIM:105400Amyotrophic lateral sclerosis 125
HP:0002450HP:0007354Amyotrophic lateral sclerosis2PSEN1 CL E G H56639508OMIM:600274Frontotemporal dementia.241
HP:0002450HP:0002398Degeneration of anterior horn cells2SETX CL E G H23064445OMIM:602433Amyotrophic lateral sclerosis 4, juvenile.162
HP:0002450HP:0007354Amyotrophic lateral sclerosis2SETX CL E G H23064445OMIM:602433Amyotrophic lateral sclerosis 4, juvenile.162
HP:0002450HP:0007354Amyotrophic lateral sclerosis2SIGMAR1 CL E G H102808157OMIM:614373Amyotrophic lateral sclerosis 16, juvenile.6
HP:0002450HP:0007354Amyotrophic lateral sclerosis2SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040281 - Very frequent6
HP:0002450HP:0002398Degeneration of anterior horn cells2SLC25A46 CL E G H9113725198ORPHA:2254Pontocerebellar hypoplasia type 114
HP:0002450HP:0002398Degeneration of anterior horn cells2SMN1 CL E G H660611117OMIM:253550Spinal muscular atrophy, type II.22
HP:0002450HP:0002398Degeneration of anterior horn cells2SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III.22
HP:0002450HP:0002398Degeneration of anterior horn cells2SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV.22
HP:0002450HP:0002398Degeneration of anterior horn cells2SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III.1
HP:0002450HP:0007354Amyotrophic lateral sclerosis2SOD1 CL E G H664711179ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate53
HP:0002450HP:0007354Amyotrophic lateral sclerosis2SOD1 CL E G H664711179OMIM:105400Amyotrophic lateral sclerosis 153
HP:0002450HP:0002398Degeneration of anterior horn cells2SOD1 CL E G H664711179OMIM:105400Amyotrophic lateral sclerosis 1.53
HP:0002450HP:0007354Amyotrophic lateral sclerosis2SPG11 CL E G H8020811226OMIM:602099Amyotrophic lateral sclerosis 5, juvenile.287
HP:0002450HP:0007354Amyotrophic lateral sclerosis2SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040281 - Very frequent287
HP:0002450HP:0007354Amyotrophic lateral sclerosis2SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040281 - Very frequent54
HP:0002450HP:0007354Amyotrophic lateral sclerosis2SQSTM1 CL E G H887811280ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate62
HP:0002450HP:0007354Amyotrophic lateral sclerosis2SQSTM1 CL E G H887811280OMIM:616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3.62
HP:0002450HP:0007354Amyotrophic lateral sclerosis2TAF15 CL E G H814811547ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate
HP:0002450HP:0007354Amyotrophic lateral sclerosis2TARDBP CL E G H2343511571ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate65
HP:0002450HP:0007354Amyotrophic lateral sclerosis2TARDBP CL E G H2343511571OMIM:612069Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia.65
HP:0002450HP:0007354Amyotrophic lateral sclerosis2TBK1 CL E G H2911011584ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate20
HP:0002450HP:0007354Amyotrophic lateral sclerosis2TBK1 CL E G H2911011584OMIM:616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4.20
HP:0002450HP:0002398Degeneration of anterior horn cells2TFG CL E G H1034211758OMIM:604484Neuropathy, hereditary motor and sensory, Okinawa type.18
HP:0002450HP:0007354Amyotrophic lateral sclerosis2TIA1 CL E G H707211802OMIM:619133AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS265
HP:0002450HP:0007354Amyotrophic lateral sclerosis2TREM2 CL E G H5420917761ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate31
HP:0002450HP:0007354Amyotrophic lateral sclerosis2TRPM7 CL E G H5482217994OMIM:105500Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1.2
HP:0002450HP:0007354Amyotrophic lateral sclerosis2TUBA4A CL E G H727712407OMIM:616208Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia.6
HP:0002450HP:0002398Degeneration of anterior horn cells2UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophyHP:0040281 - Very frequent35
HP:0002450HP:0002398Degeneration of anterior horn cells2UBA1 CL E G H731712469OMIM:301830Spinal muscular atrophy, X-linked 2.35
HP:0002450HP:0007354Amyotrophic lateral sclerosis2UBQLN2 CL E G H2997812509ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate20
HP:0002450HP:0007354Amyotrophic lateral sclerosis2UBQLN2 CL E G H2997812509OMIM:300857Amyotrophic lateral sclerosis 15 with or without frontotemporal dementiaHP:0040280 - Obligate20
HP:0002450HP:0007354Amyotrophic lateral sclerosis2UNC13A CL E G H2302523150ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate1
HP:0002450HP:0007354Amyotrophic lateral sclerosis2VAPB CL E G H921712649ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate116
HP:0002450HP:0007354Amyotrophic lateral sclerosis2VAPB CL E G H921712649OMIM:608627Amyotrophic lateral sclerosis 8.116
HP:0002450HP:0007354Amyotrophic lateral sclerosis2VCP CL E G H741512666ORPHA:803Amyotrophic lateral sclerosisHP:0040280 - Obligate63
HP:0002450HP:0007354Amyotrophic lateral sclerosis2VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0002450HP:0007354Amyotrophic lateral sclerosis2VCP CL E G H741512666ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional63
HP:0002450HP:0002398Degeneration of anterior horn cells2VRK1 CL E G H744312718ORPHA:2254Pontocerebellar hypoplasia type 132
HP:0002450HP:0002398Degeneration of anterior horn cells2VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A.32


Genes (79) :AGTPBP1 ALDH18A1 ALS2 ANG ANXA11 ASAH1 ATXN2 ATXN3 C19ORF12 C9ORF72 CCNF CEP126 CFAP410 CHCHD10 CHMP2B CPLANE1 CYLD DAO DCTN1 EPHA4 ERBB4 ERLIN2 EXOSC3 EXOSC8 EXOSC9 FIG4 FUS GBE1 GLE1 GLT8D1 GRN HNRNPA1 HNRNPA2B1 IGHMBP2 KIF5A MAPT MATR3 NEFH NEK1 OPTN PFN1 PLEKHG5 PNPLA6 PON1 PON2 PON3 PPARGC1A PRPH PSEN1 RBM28 SCP2 SETX SIGMAR1 SLC25A46 SMN1 SMN2 SOD1 SPG11 SPG7 SPTLC1 SQSTM1 TAF15 TARDBP TBK1 TFG TIA1 TMEM106B TREM2 TRPM7 TUBA4A TYROBP UBA1 UBQLN2 UNC13A VAPB VCP VPS13D VPS41 VRK1

Diseases (65) :ORPHA:2254 OMIM:601162 OMIM:205100 ORPHA:300605 ORPHA:247604 OMIM:606353 OMIM:607225 ORPHA:803 OMIM:611895 OMIM:617839 OMIM:159950 ORPHA:2590 ORPHA:276244 OMIM:614298 OMIM:105550 ORPHA:275872 ORPHA:100070 OMIM:619141 ORPHA:65684 OMIM:615911 OMIM:619132 OMIM:105400 OMIM:607641 OMIM:615515 OMIM:612577 OMIM:608030 OMIM:263570 OMIM:611890 OMIM:253310 OMIM:615426 ORPHA:52430 OMIM:604320 OMIM:617921 OMIM:600274 OMIM:606070 ORPHA:600 OMIM:617892 OMIM:613435 OMIM:614808 OMIM:611067 OMIM:215470 ORPHA:157954 OMIM:613724 OMIM:602433 OMIM:614373 OMIM:253550 OMIM:253400 OMIM:271150 OMIM:602099 ORPHA:35689 OMIM:616437 OMIM:612069 OMIM:616439 OMIM:604484 OMIM:619133 OMIM:105500 OMIM:616208 OMIM:221770 ORPHA:1145 OMIM:301830 OMIM:300857 OMIM:608627 OMIM:613954 ORPHA:95434 OMIM:607596
 

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