Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system morphology (HP:0012639)help
Parent Node:
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Abnormal motor neuron morphology (HP:0002450)help
Parent Node:
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Abnormal peripheral nervous system morphology (HP:0000759)help
..Starting node
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Abnormal lower motor neuron morphology (HP:0002366)help
Term ID: 2366
Name: Abnormal lower motor neuron morphology
Synonym: Lower motor neuron disease; Lower motor neuron manifestations; Lower motor neuron signs
Definition: Any structural anomaly of the lower motor neuron.
Comments:
Reference: HP:0002366
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal anterior horn cell morphology (HP:0006802) help
..expandAbnormal cranial nerve morphology (HP:0001291) help
..expandAbnormal peripheral myelination (HP:0003130) help
..expandAbnormality of peripheral nerves (HP:0045010) help
..expandDecreased size of nerve terminals (HP:0003443) help
..expandDiffuse axonal swelling (HP:0003405) help
..expandEnhanced neurotoxicity of vincristine (HP:0003009) help
..expandHypertrophic nerve changes (HP:0003382) help
..expandMinifascicle formation (HP:0031001) help
..expandNeoplasm of the peripheral nervous system (HP:0100007) help
..expandNeuritis (HP:0031002) help
..expandPeripheral axonal degeneration (HP:0000764) help
..expandPeripheral neuropathy (HP:0009830) 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:0002366HP:0002366Abnormal lower motor neuron morphology0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile.114
HP:0002366HP:0002366Abnormal lower motor neuron morphology0ALS2 CL E G H57679443OMIM:607225Spastic paralysis, infantile-onset ascending.114
HP:0002366HP:0002366Abnormal lower motor neuron morphology0ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndromeHP:0040281 - Very frequent78
HP:0002366HP:0002366Abnormal lower motor neuron morphology0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040282 - Frequent14
HP:0002366HP:0002366Abnormal lower motor neuron morphology0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4.HP:0003584 - Late onset114
HP:0002366HP:0002366Abnormal lower motor neuron morphology0C9ORF72 CL E G H20322828337OMIM:105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1.56
HP:0002366HP:0002366Abnormal lower motor neuron morphology0C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040281 - Very frequent56
HP:0002366HP:0002366Abnormal lower motor neuron morphology0C9ORF72 CL E G H20322828337ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional56
HP:0002366HP:0002366Abnormal lower motor neuron morphology0CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040281 - Very frequent11
HP:0002366HP:0002366Abnormal lower motor neuron morphology0CHMP2B CL E G H2597824537ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional42
HP:0002366HP:0002366Abnormal lower motor neuron morphology0DCTN1 CL E G H16392711OMIM:607641Neuronopathy, distal hereditary motor, type VIIB.86
HP:0002366HP:0002366Abnormal lower motor neuron morphology0FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040281 - Very frequent105
HP:0002366HP:0002366Abnormal lower motor neuron morphology0GRN CL E G H28964601ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional126
HP:0002366HP:0002366Abnormal lower motor neuron morphology0MAPT CL E G H41376893ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional140
HP:0002366HP:0002366Abnormal lower motor neuron morphology0MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 21.80
HP:0002366HP:0002366Abnormal lower motor neuron morphology0PLEKHG5 CL E G H5744929105OMIM:611067Spinal muscular atrophy, distal, autosomal recessive, 4.186
HP:0002366HP:0002366Abnormal lower motor neuron morphology0PSEN1 CL E G H56639508ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional241
HP:0002366HP:0002366Abnormal lower motor neuron morphology0SETX CL E G H23064445OMIM:602433Amyotrophic lateral sclerosis 4, juvenile.162
HP:0002366HP:0002366Abnormal lower motor neuron morphology0SIGMAR1 CL E G H102808157OMIM:614373Amyotrophic lateral sclerosis 16, juvenile.6
HP:0002366HP:0002366Abnormal lower motor neuron morphology0SPG11 CL E G H8020811226OMIM:602099Amyotrophic lateral sclerosis 5, juvenile.287
HP:0002366HP:0002366Abnormal lower motor neuron morphology0SQSTM1 CL E G H887811280OMIM:616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3.62
HP:0002366HP:0002366Abnormal lower motor neuron morphology0SQSTM1 CL E G H887811280ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040281 - Very frequent62
HP:0002366HP:0002366Abnormal lower motor neuron morphology0TARDBP CL E G H2343511571ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040281 - Very frequent65
HP:0002366HP:0002366Abnormal lower motor neuron morphology0TBK1 CL E G H2911011584OMIM:616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4.20
HP:0002366HP:0002366Abnormal lower motor neuron morphology0TBK1 CL E G H2911011584ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040281 - Very frequent20
HP:0002366HP:0002366Abnormal lower motor neuron morphology0TMEM106B CL E G H5466422407ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional
HP:0002366HP:0002366Abnormal lower motor neuron morphology0TREM2 CL E G H5420917761ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional31
HP:0002366HP:0002366Abnormal lower motor neuron morphology0TRPM7 CL E G H5482217994OMIM:105500Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1.2
HP:0002366HP:0002366Abnormal lower motor neuron morphology0VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0002366HP:0002366Abnormal lower motor neuron morphology0VCP CL E G H741512666ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040281 - Very frequent63
HP:0002366HP:0002366Abnormal lower motor neuron morphology0VCP CL E G H741512666ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional63
HP:0002366HP:0002366Abnormal lower motor neuron morphology0VPS13D CL E G H5518723595ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndromeHP:0040281 - Very frequent
HP:0002366HP:0002366Abnormal lower motor neuron morphology0VPS41 CL E G H2707212713ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndromeHP:0040281 - Very frequent


Genes (26) :ALS2 ASAH1 ATXN3 C19ORF12 C9ORF72 CHCHD10 CHMP2B DCTN1 FUS GRN MAPT MATR3 PLEKHG5 PSEN1 SETX SIGMAR1 SPG11 SQSTM1 TARDBP TBK1 TMEM106B TREM2 TRPM7 VCP VPS13D VPS41

Diseases (19) :OMIM:205100 OMIM:607225 ORPHA:2590 ORPHA:276244 OMIM:614298 OMIM:105550 ORPHA:275872 ORPHA:100070 OMIM:607641 OMIM:606070 OMIM:611067 OMIM:602433 OMIM:614373 OMIM:602099 OMIM:616437 OMIM:616439 OMIM:105500 OMIM:613954 ORPHA:95434
 

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