Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system morphology (HP:0012639)help
Parent Node:
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Morphological central nervous system abnormality (HP:0002011)help
..Starting node
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Morphological abnormality of the pyramidal tract (HP:0002062)help
Term ID: 2062
Name: Morphological abnormality of the pyramidal tract
Synonym: Abnormality of the pyramidal tracts; Pyramidal tract disease
Definition: Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts.
Comments:
Reference: HP:0002062
Genes and Diseases:
 
       Child Nodes:
........expandAbnormality of the corticospinal tract (HP:0002492) help
................... HP:0007365 Aplasia/Hypoplasia involving the corticospinal tracts
................... HP:0007372 Atrophy/Degeneration involving the corticospinal tracts
................... HP:0008361 Corticospinal tract pallor
........expandAplasia/Hypoplasia of the pyramidal tract (HP:0007363) help
................... HP:0007348 Hypoplasia of the pyramidal tract
................... HP:0100322 Aplasia of the pyramidal tract

 Sister Nodes: 
..expandAbnormal CNS myelination (HP:0011400) help
..expandAbnormal glial cell morphology (HP:0100705) help
..expandAbnormal meningeal morphology (HP:0010651) help
..expandAbnormal neural tube morphology (HP:0410043) help
..expandAbnormal subarachnoid space morphology (HP:0012703) help
..expandAbnormality of brain morphology (HP:0012443) help
..expandAbnormality of neuronal migration (HP:0002269) help
..expandAbnormality of the cerebrospinal fluid (HP:0002921) help
..expandAbnormality of the spinal cord (HP:0002143) help
..expandAlzheimer disease (HP:0002511) help
..expandAplasia/Hypoplasia involving the central nervous system (HP:0002977) help
..expandAtrophy/Degeneration affecting the central nervous system (HP:0007367) help
..expandCentral nervous system cyst (HP:0030724) help
..expandEncephalocele (HP:0002084) help
..expandNeoplasm of the central nervous system (HP:0100006) help
..expandUnusual CNS infection (HP:0011450) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002062HP:0002062Morphological abnormality of the pyramidal tract0ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0002062HP:0002062Morphological abnormality of the pyramidal tract0ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0002062HP:0002062Morphological abnormality of the pyramidal tract0ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0002062HP:0002062Morphological abnormality of the pyramidal tract0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0002062HP:0002062Morphological abnormality of the pyramidal tract0DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM12103013613326
HP:0002062HP:0002062Morphological abnormality of the pyramidal tract0GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0002062HP:0002062Morphological abnormality of the pyramidal tract0KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0002062HP:0002062Morphological abnormality of the pyramidal tract0L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM125320499609584
HP:0002062HP:0002062Morphological abnormality of the pyramidal tract0MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15816893157140
HP:0002062HP:0002062Morphological abnormality of the pyramidal tract0PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0002062HP:0002062Morphological abnormality of the pyramidal tract0PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0002062HP:0002062Morphological abnormality of the pyramidal tract0SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002062HP:0002062Morphological abnormality of the pyramidal tract0SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM140510985603861
HP:0002062HP:0002062Morphological abnormality of the pyramidal tract0SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0002062HP:0002062Morphological abnormality of the pyramidal tract0SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0002062HP:0002062Morphological abnormality of the pyramidal tract0TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0002062HP:0002062Morphological abnormality of the pyramidal tract0VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM135912649605704
HP:0002062HP:0002492Morphological abnormality of the corticospinal tract1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0002062HP:0007363Aplasia/Hypoplasia of the pyramidal tract1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0002062HP:0002492Morphological abnormality of the corticospinal tract1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0002062HP:0007363Aplasia/Hypoplasia of the pyramidal tract1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0002062HP:0002492Morphological abnormality of the corticospinal tract1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0002062HP:0007363Aplasia/Hypoplasia of the pyramidal tract1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0002062HP:0007363Aplasia/Hypoplasia of the pyramidal tract1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0002062HP:0002492Morphological abnormality of the corticospinal tract1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0002062HP:0002492Morphological abnormality of the corticospinal tract1DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM12103013613326
HP:0002062HP:0007363Aplasia/Hypoplasia of the pyramidal tract1DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM12103013613326
HP:0002062HP:0002492Morphological abnormality of the corticospinal tract1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0002062HP:0007363Aplasia/Hypoplasia of the pyramidal tract1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0002062HP:0002492Morphological abnormality of the corticospinal tract1KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0002062HP:0007363Aplasia/Hypoplasia of the pyramidal tract1KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0002062HP:0007363Aplasia/Hypoplasia of the pyramidal tract1L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM125320499609584
HP:0002062HP:0002492Morphological abnormality of the corticospinal tract1L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM125320499609584
HP:0002062HP:0007363Aplasia/Hypoplasia of the pyramidal tract1MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15816893157140
HP:0002062HP:0002492Morphological abnormality of the corticospinal tract1MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15816893157140
HP:0002062HP:0002492Morphological abnormality of the corticospinal tract1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0002062HP:0007363Aplasia/Hypoplasia of the pyramidal tract1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0002062HP:0007363Aplasia/Hypoplasia of the pyramidal tract1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0002062HP:0002492Morphological abnormality of the corticospinal tract1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0002062HP:0007363Aplasia/Hypoplasia of the pyramidal tract1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002062HP:0002492Morphological abnormality of the corticospinal tract1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002062HP:0007363Aplasia/Hypoplasia of the pyramidal tract1SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM140510985603861
HP:0002062HP:0002492Morphological abnormality of the corticospinal tract1SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM140510985603861
HP:0002062HP:0007363Aplasia/Hypoplasia of the pyramidal tract1SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0002062HP:0002492Morphological abnormality of the corticospinal tract1SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0002062HP:0002492Morphological abnormality of the corticospinal tract1SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0002062HP:0007363Aplasia/Hypoplasia of the pyramidal tract1SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0002062HP:0002492Morphological abnormality of the corticospinal tract1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0002062HP:0007363Aplasia/Hypoplasia of the pyramidal tract1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0002062HP:0007363Aplasia/Hypoplasia of the pyramidal tract1VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM135912649605704
HP:0002062HP:0002492Morphological abnormality of the corticospinal tract1VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM135912649605704
HP:0002062HP:0007348Hypoplasia of the pyramidal tract2ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0002062HP:0007365Aplasia/Hypoplasia involving the corticospinal tracts2ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0002062HP:0100322Aplasia of the pyramidal tract2ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0002062HP:0007372Atrophy/Degeneration involving the corticospinal tracts2ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0002062HP:0008361Corticospinal tract pallor2ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0002062HP:0007365Aplasia/Hypoplasia involving the corticospinal tracts2ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0002062HP:0007348Hypoplasia of the pyramidal tract2ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0002062HP:0100322Aplasia of the pyramidal tract2ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0002062HP:0007372Atrophy/Degeneration involving the corticospinal tracts2ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0002062HP:0008361Corticospinal tract pallor2ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0002062HP:0007372Atrophy/Degeneration involving the corticospinal tracts2ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0002062HP:0008361Corticospinal tract pallor2ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0002062HP:0007348Hypoplasia of the pyramidal tract2ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0002062HP:0007365Aplasia/Hypoplasia involving the corticospinal tracts2ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0002062HP:0100322Aplasia of the pyramidal tract2ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0002062HP:0100322Aplasia of the pyramidal tract2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0002062HP:0007372Atrophy/Degeneration involving the corticospinal tracts2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0002062HP:0008361Corticospinal tract pallor2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0002062HP:0007365Aplasia/Hypoplasia involving the corticospinal tracts2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0002062HP:0007348Hypoplasia of the pyramidal tract2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0002062HP:0007365Aplasia/Hypoplasia involving the corticospinal tracts2DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM12103013613326
HP:0002062HP:0007348Hypoplasia of the pyramidal tract2DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM12103013613326
HP:0002062HP:0100322Aplasia of the pyramidal tract2DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM12103013613326
HP:0002062HP:0007372Atrophy/Degeneration involving the corticospinal tracts2DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM12103013613326
HP:0002062HP:0008361Corticospinal tract pallor2DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM12103013613326
HP:0002062HP:0007372Atrophy/Degeneration involving the corticospinal tracts2GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0002062HP:0008361Corticospinal tract pallor2GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0002062HP:0007365Aplasia/Hypoplasia involving the corticospinal tracts2GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0002062HP:0007348Hypoplasia of the pyramidal tract2GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0002062HP:0100322Aplasia of the pyramidal tract2GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0002062HP:0008361Corticospinal tract pallor2KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0002062HP:0007372Atrophy/Degeneration involving the corticospinal tracts2KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0002062HP:0007365Aplasia/Hypoplasia involving the corticospinal tracts2KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0002062HP:0007348Hypoplasia of the pyramidal tract2KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0002062HP:0100322Aplasia of the pyramidal tract2KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0002062HP:0007372Atrophy/Degeneration involving the corticospinal tracts2L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM125320499609584
HP:0002062HP:0008361Corticospinal tract pallor2L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM125320499609584
HP:0002062HP:0007365Aplasia/Hypoplasia involving the corticospinal tracts2L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM125320499609584
HP:0002062HP:0007348Hypoplasia of the pyramidal tract2L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM125320499609584
HP:0002062HP:0100322Aplasia of the pyramidal tract2L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM125320499609584
HP:0002062HP:0007372Atrophy/Degeneration involving the corticospinal tracts2MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15816893157140
HP:0002062HP:0008361Corticospinal tract pallor2MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15816893157140
HP:0002062HP:0007348Hypoplasia of the pyramidal tract2MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15816893157140
HP:0002062HP:0007365Aplasia/Hypoplasia involving the corticospinal tracts2MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15816893157140
HP:0002062HP:0100322Aplasia of the pyramidal tract2MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15816893157140
HP:0002062HP:0007365Aplasia/Hypoplasia involving the corticospinal tracts2PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0002062HP:0007348Hypoplasia of the pyramidal tract2PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0002062HP:0100322Aplasia of the pyramidal tract2PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0002062HP:0008361Corticospinal tract pallor2PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0002062HP:0007372Atrophy/Degeneration involving the corticospinal tracts2PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0002062HP:0008361Corticospinal tract pallor2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0002062HP:0007372Atrophy/Degeneration involving the corticospinal tracts2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0002062HP:0007365Aplasia/Hypoplasia involving the corticospinal tracts2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0002062HP:0007348Hypoplasia of the pyramidal tract2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0002062HP:0100322Aplasia of the pyramidal tract2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0002062HP:0007372Atrophy/Degeneration involving the corticospinal tracts2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002062HP:0008361Corticospinal tract pallor2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002062HP:0007365Aplasia/Hypoplasia involving the corticospinal tracts2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002062HP:0007348Hypoplasia of the pyramidal tract2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002062HP:0100322Aplasia of the pyramidal tract2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002062HP:0100322Aplasia of the pyramidal tract2SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM140510985603861
HP:0002062HP:0007372Atrophy/Degeneration involving the corticospinal tracts2SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM140510985603861
HP:0002062HP:0008361Corticospinal tract pallor2SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM140510985603861
HP:0002062HP:0007365Aplasia/Hypoplasia involving the corticospinal tracts2SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM140510985603861
HP:0002062HP:0007348Hypoplasia of the pyramidal tract2SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM140510985603861
HP:0002062HP:0100322Aplasia of the pyramidal tract2SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0002062HP:0007372Atrophy/Degeneration involving the corticospinal tracts2SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0002062HP:0008361Corticospinal tract pallor2SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0002062HP:0007365Aplasia/Hypoplasia involving the corticospinal tracts2SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0002062HP:0007348Hypoplasia of the pyramidal tract2SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0002062HP:0007365Aplasia/Hypoplasia involving the corticospinal tracts2SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0002062HP:0007348Hypoplasia of the pyramidal tract2SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0002062HP:0100322Aplasia of the pyramidal tract2SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0002062HP:0008361Corticospinal tract pallor2SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0002062HP:0007372Atrophy/Degeneration involving the corticospinal tracts2SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0002062HP:0007372Atrophy/Degeneration involving the corticospinal tracts2TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0002062HP:0008361Corticospinal tract pallor2TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0002062HP:0007348Hypoplasia of the pyramidal tract2TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0002062HP:0007365Aplasia/Hypoplasia involving the corticospinal tracts2TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0002062HP:0100322Aplasia of the pyramidal tract2TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0002062HP:0100322Aplasia of the pyramidal tract2VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM135912649605704
HP:0002062HP:0007372Atrophy/Degeneration involving the corticospinal tracts2VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM135912649605704
HP:0002062HP:0008361Corticospinal tract pallor2VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM135912649605704
HP:0002062HP:0007365Aplasia/Hypoplasia involving the corticospinal tracts2VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM135912649605704
HP:0002062HP:0007348Hypoplasia of the pyramidal tract2VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM135912649605704
HP:0002062HP:0002314Degeneration of the lateral corticospinal tracts3ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0002062HP:0007117Corticospinal tract atrophy3ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0002062HP:0007016Corticospinal tract hypoplasia3ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0002062HP:0002314Degeneration of the lateral corticospinal tracts3ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0002062HP:0007117Corticospinal tract atrophy3ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0002062HP:0007016Corticospinal tract hypoplasia3ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0002062HP:0007016Corticospinal tract hypoplasia3ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0002062HP:0002314Degeneration of the lateral corticospinal tracts3ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0002062HP:0007117Corticospinal tract atrophy3ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0002062HP:0002314Degeneration of the lateral corticospinal tracts3CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0002062HP:0007117Corticospinal tract atrophy3CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0002062HP:0007016Corticospinal tract hypoplasia3CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0002062HP:0002314Degeneration of the lateral corticospinal tracts3DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM12103013613326
HP:0002062HP:0007117Corticospinal tract atrophy3DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM12103013613326
HP:0002062HP:0007016Corticospinal tract hypoplasia3DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM12103013613326
HP:0002062HP:0007016Corticospinal tract hypoplasia3GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0002062HP:0002314Degeneration of the lateral corticospinal tracts3GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0002062HP:0007117Corticospinal tract atrophy3GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0002062HP:0007016Corticospinal tract hypoplasia3KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0002062HP:0002314Degeneration of the lateral corticospinal tracts3KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0002062HP:0007117Corticospinal tract atrophy3KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0002062HP:0007117Corticospinal tract atrophy3L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM125320499609584
HP:0002062HP:0007016Corticospinal tract hypoplasia3L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM125320499609584
HP:0002062HP:0002314Degeneration of the lateral corticospinal tracts3L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM125320499609584
HP:0002062HP:0007117Corticospinal tract atrophy3MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15816893157140
HP:0002062HP:0007016Corticospinal tract hypoplasia3MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15816893157140
HP:0002062HP:0002314Degeneration of the lateral corticospinal tracts3MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15816893157140
HP:0002062HP:0002314Degeneration of the lateral corticospinal tracts3PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0002062HP:0007117Corticospinal tract atrophy3PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0002062HP:0007016Corticospinal tract hypoplasia3PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0002062HP:0007117Corticospinal tract atrophy3PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0002062HP:0007016Corticospinal tract hypoplasia3PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0002062HP:0002314Degeneration of the lateral corticospinal tracts3PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0002062HP:0007117Corticospinal tract atrophy3SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002062HP:0007016Corticospinal tract hypoplasia3SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002062HP:0002314Degeneration of the lateral corticospinal tracts3SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002062HP:0002314Degeneration of the lateral corticospinal tracts3SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM140510985603861
HP:0002062HP:0007117Corticospinal tract atrophy3SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM140510985603861
HP:0002062HP:0007016Corticospinal tract hypoplasia3SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM140510985603861
HP:0002062HP:0002314Degeneration of the lateral corticospinal tracts3SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0002062HP:0007117Corticospinal tract atrophy3SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0002062HP:0007016Corticospinal tract hypoplasia3SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0002062HP:0002314Degeneration of the lateral corticospinal tracts3SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0002062HP:0007117Corticospinal tract atrophy3SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0002062HP:0007016Corticospinal tract hypoplasia3SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0002062HP:0007016Corticospinal tract hypoplasia3TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0002062HP:0002314Degeneration of the lateral corticospinal tracts3TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0002062HP:0007117Corticospinal tract atrophy3TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0002062HP:0002314Degeneration of the lateral corticospinal tracts3VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM135912649605704
HP:0002062HP:0007117Corticospinal tract atrophy3VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM135912649605704
HP:0002062HP:0007016Corticospinal tract hypoplasia3VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM135912649605704
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (55) :ALS2 ATL1 ATP6 ATXN10 ATXN8 ATXN8OS BAZ1B C9ORF72 CHCHD10 CLIP2 CPT1C CTC1 DCC DEAF1 DNAL4 DPYS ELN FKTN FLII FUS GAN GTF2I GTF2IRD1 IQSEC2 KCNC3 L1CAM L2HGDH LIMK1 MAPT NIPA1 NTN1 PLA2G6 PLP1 PRKRA RAD51 RAI1 RFC2 RTN2 SLC19A3 SLC25A15 SLC2A1 SLC33A1 SLC6A3 SOD1 SPAST SPG11 SPG7 SQSTM1 TARDBP TBK1 TBL2 TREX1 VAPB VCP WASHC5

Diseases (37) :603516 608768 612199 222748 256850 605259 236792 260540 256600 612067 607483 238970 601042 613135 225750 608627 607225 238722 904 253800 182600 644 551500 275872 444099 819 307000 600363 312920 100993 171863 105400 182601 604360 607259 100989 603563
 

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