Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0002062 | HP:0002062 | Morphological abnormality of the pyramidal tract | 0 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 116 | 10549 | 611150 |
HP:0002062 | HP:0002062 | Morphological abnormality of the pyramidal tract | 0 | ATXN8 CL E G H | 724066 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 2 | 32925 | 613289 |
HP:0002062 | HP:0002062 | Morphological abnormality of the pyramidal tract | 0 | ATXN8OS CL E G H | 6315 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 87 | 10561 | 603680 |
HP:0002062 | HP:0002062 | Morphological abnormality of the pyramidal tract | 0 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0002062 | HP:0002062 | Morphological abnormality of the pyramidal tract | 0 | DPYS CL E G H | 1807 | 222748 | Dihydropyrimidinase deficiency | 222748 | C0342803 | OMIM | 1 | | 210 | 3013 | 613326 |
HP:0002062 | HP:0002062 | Morphological abnormality of the pyramidal tract | 0 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 777 | 4137 | 605379 |
HP:0002062 | HP:0002062 | Morphological abnormality of the pyramidal tract | 0 | KCNC3 CL E G H | 3748 | 605259 | Spinocerebellar ataxia 13 | 605259 | C1854488 | OMIM | 1 | | 311 | 6235 | 176264 |
HP:0002062 | HP:0002062 | Morphological abnormality of the pyramidal tract | 0 | L2HGDH CL E G H | 79944 | 236792 | L-2-hydroxyglutaric aciduria | 236792 | C1855995 | OMIM | 1 | | 253 | 20499 | 609584 |
HP:0002062 | HP:0002062 | Morphological abnormality of the pyramidal tract | 0 | MAPT CL E G H | 4137 | 260540 | Parkinson-dementia syndrome | 260540 | C1850077 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0002062 | HP:0002062 | Morphological abnormality of the pyramidal tract | 0 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0002062 | HP:0002062 | Morphological abnormality of the pyramidal tract | 0 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0002062 | HP:0002062 | Morphological abnormality of the pyramidal tract | 0 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002062 | HP:0002062 | Morphological abnormality of the pyramidal tract | 0 | SLC25A15 CL E G H | 10166 | 238970 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 238970 | C0268540 | OMIM | 1 | | 405 | 10985 | 603861 |
HP:0002062 | HP:0002062 | Morphological abnormality of the pyramidal tract | 0 | SLC2A1 CL E G H | 6513 | 601042 | Dystonia 9 | 601042 | C1832855 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0002062 | HP:0002062 | Morphological abnormality of the pyramidal tract | 0 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 583 | 11049 | 126455 |
HP:0002062 | HP:0002062 | Morphological abnormality of the pyramidal tract | 0 | TREX1 CL E G H | 11277 | 225750 | Aicardi Goutieres syndrome 1 | 225750 | C0796126 | OMIM | 1 | | 418 | 12269 | 606609 |
HP:0002062 | HP:0002062 | Morphological abnormality of the pyramidal tract | 0 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 1 | | 359 | 12649 | 605704 |
HP:0002062 | HP:0002492 | Morphological abnormality of the corticospinal tract | 1 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 116 | 10549 | 611150 |
HP:0002062 | HP:0007363 | Aplasia/Hypoplasia of the pyramidal tract | 1 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 116 | 10549 | 611150 |
HP:0002062 | HP:0002492 | Morphological abnormality of the corticospinal tract | 1 | ATXN8 CL E G H | 724066 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 2 | 32925 | 613289 |
HP:0002062 | HP:0007363 | Aplasia/Hypoplasia of the pyramidal tract | 1 | ATXN8 CL E G H | 724066 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 2 | 32925 | 613289 |
HP:0002062 | HP:0002492 | Morphological abnormality of the corticospinal tract | 1 | ATXN8OS CL E G H | 6315 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 87 | 10561 | 603680 |
HP:0002062 | HP:0007363 | Aplasia/Hypoplasia of the pyramidal tract | 1 | ATXN8OS CL E G H | 6315 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 87 | 10561 | 603680 |
HP:0002062 | HP:0007363 | Aplasia/Hypoplasia of the pyramidal tract | 1 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0002062 | HP:0002492 | Morphological abnormality of the corticospinal tract | 1 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0002062 | HP:0002492 | Morphological abnormality of the corticospinal tract | 1 | DPYS CL E G H | 1807 | 222748 | Dihydropyrimidinase deficiency | 222748 | C0342803 | OMIM | 1 | | 210 | 3013 | 613326 |
HP:0002062 | HP:0007363 | Aplasia/Hypoplasia of the pyramidal tract | 1 | DPYS CL E G H | 1807 | 222748 | Dihydropyrimidinase deficiency | 222748 | C0342803 | OMIM | 1 | | 210 | 3013 | 613326 |
HP:0002062 | HP:0002492 | Morphological abnormality of the corticospinal tract | 1 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 777 | 4137 | 605379 |
HP:0002062 | HP:0007363 | Aplasia/Hypoplasia of the pyramidal tract | 1 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 777 | 4137 | 605379 |
HP:0002062 | HP:0002492 | Morphological abnormality of the corticospinal tract | 1 | KCNC3 CL E G H | 3748 | 605259 | Spinocerebellar ataxia 13 | 605259 | C1854488 | OMIM | 1 | | 311 | 6235 | 176264 |
HP:0002062 | HP:0007363 | Aplasia/Hypoplasia of the pyramidal tract | 1 | KCNC3 CL E G H | 3748 | 605259 | Spinocerebellar ataxia 13 | 605259 | C1854488 | OMIM | 1 | | 311 | 6235 | 176264 |
HP:0002062 | HP:0007363 | Aplasia/Hypoplasia of the pyramidal tract | 1 | L2HGDH CL E G H | 79944 | 236792 | L-2-hydroxyglutaric aciduria | 236792 | C1855995 | OMIM | 1 | | 253 | 20499 | 609584 |
HP:0002062 | HP:0002492 | Morphological abnormality of the corticospinal tract | 1 | L2HGDH CL E G H | 79944 | 236792 | L-2-hydroxyglutaric aciduria | 236792 | C1855995 | OMIM | 1 | | 253 | 20499 | 609584 |
HP:0002062 | HP:0007363 | Aplasia/Hypoplasia of the pyramidal tract | 1 | MAPT CL E G H | 4137 | 260540 | Parkinson-dementia syndrome | 260540 | C1850077 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0002062 | HP:0002492 | Morphological abnormality of the corticospinal tract | 1 | MAPT CL E G H | 4137 | 260540 | Parkinson-dementia syndrome | 260540 | C1850077 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0002062 | HP:0002492 | Morphological abnormality of the corticospinal tract | 1 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0002062 | HP:0007363 | Aplasia/Hypoplasia of the pyramidal tract | 1 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0002062 | HP:0007363 | Aplasia/Hypoplasia of the pyramidal tract | 1 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0002062 | HP:0002492 | Morphological abnormality of the corticospinal tract | 1 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0002062 | HP:0007363 | Aplasia/Hypoplasia of the pyramidal tract | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002062 | HP:0002492 | Morphological abnormality of the corticospinal tract | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002062 | HP:0007363 | Aplasia/Hypoplasia of the pyramidal tract | 1 | SLC25A15 CL E G H | 10166 | 238970 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 238970 | C0268540 | OMIM | 1 | | 405 | 10985 | 603861 |
HP:0002062 | HP:0002492 | Morphological abnormality of the corticospinal tract | 1 | SLC25A15 CL E G H | 10166 | 238970 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 238970 | C0268540 | OMIM | 1 | | 405 | 10985 | 603861 |
HP:0002062 | HP:0007363 | Aplasia/Hypoplasia of the pyramidal tract | 1 | SLC2A1 CL E G H | 6513 | 601042 | Dystonia 9 | 601042 | C1832855 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0002062 | HP:0002492 | Morphological abnormality of the corticospinal tract | 1 | SLC2A1 CL E G H | 6513 | 601042 | Dystonia 9 | 601042 | C1832855 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0002062 | HP:0002492 | Morphological abnormality of the corticospinal tract | 1 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 583 | 11049 | 126455 |
HP:0002062 | HP:0007363 | Aplasia/Hypoplasia of the pyramidal tract | 1 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 583 | 11049 | 126455 |
HP:0002062 | HP:0002492 | Morphological abnormality of the corticospinal tract | 1 | TREX1 CL E G H | 11277 | 225750 | Aicardi Goutieres syndrome 1 | 225750 | C0796126 | OMIM | 1 | | 418 | 12269 | 606609 |
HP:0002062 | HP:0007363 | Aplasia/Hypoplasia of the pyramidal tract | 1 | TREX1 CL E G H | 11277 | 225750 | Aicardi Goutieres syndrome 1 | 225750 | C0796126 | OMIM | 1 | | 418 | 12269 | 606609 |
HP:0002062 | HP:0007363 | Aplasia/Hypoplasia of the pyramidal tract | 1 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 1 | | 359 | 12649 | 605704 |
HP:0002062 | HP:0002492 | Morphological abnormality of the corticospinal tract | 1 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 1 | | 359 | 12649 | 605704 |
HP:0002062 | HP:0007348 | Hypoplasia of the pyramidal tract | 2 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 116 | 10549 | 611150 |
HP:0002062 | HP:0007365 | Aplasia/Hypoplasia involving the corticospinal tracts | 2 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 116 | 10549 | 611150 |
HP:0002062 | HP:0100322 | Aplasia of the pyramidal tract | 2 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 116 | 10549 | 611150 |
HP:0002062 | HP:0007372 | Atrophy/Degeneration involving the corticospinal tracts | 2 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 116 | 10549 | 611150 |
HP:0002062 | HP:0008361 | Corticospinal tract pallor | 2 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 116 | 10549 | 611150 |
HP:0002062 | HP:0007365 | Aplasia/Hypoplasia involving the corticospinal tracts | 2 | ATXN8 CL E G H | 724066 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 2 | 32925 | 613289 |
HP:0002062 | HP:0007348 | Hypoplasia of the pyramidal tract | 2 | ATXN8 CL E G H | 724066 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 2 | 32925 | 613289 |
HP:0002062 | HP:0100322 | Aplasia of the pyramidal tract | 2 | ATXN8 CL E G H | 724066 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 2 | 32925 | 613289 |
HP:0002062 | HP:0007372 | Atrophy/Degeneration involving the corticospinal tracts | 2 | ATXN8 CL E G H | 724066 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 2 | 32925 | 613289 |
HP:0002062 | HP:0008361 | Corticospinal tract pallor | 2 | ATXN8 CL E G H | 724066 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 2 | 32925 | 613289 |
HP:0002062 | HP:0007372 | Atrophy/Degeneration involving the corticospinal tracts | 2 | ATXN8OS CL E G H | 6315 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 87 | 10561 | 603680 |
HP:0002062 | HP:0008361 | Corticospinal tract pallor | 2 | ATXN8OS CL E G H | 6315 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 87 | 10561 | 603680 |
HP:0002062 | HP:0007348 | Hypoplasia of the pyramidal tract | 2 | ATXN8OS CL E G H | 6315 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 87 | 10561 | 603680 |
HP:0002062 | HP:0007365 | Aplasia/Hypoplasia involving the corticospinal tracts | 2 | ATXN8OS CL E G H | 6315 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 87 | 10561 | 603680 |
HP:0002062 | HP:0100322 | Aplasia of the pyramidal tract | 2 | ATXN8OS CL E G H | 6315 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 87 | 10561 | 603680 |
HP:0002062 | HP:0100322 | Aplasia of the pyramidal tract | 2 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0002062 | HP:0007372 | Atrophy/Degeneration involving the corticospinal tracts | 2 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0002062 | HP:0008361 | Corticospinal tract pallor | 2 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0002062 | HP:0007365 | Aplasia/Hypoplasia involving the corticospinal tracts | 2 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0002062 | HP:0007348 | Hypoplasia of the pyramidal tract | 2 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0002062 | HP:0007365 | Aplasia/Hypoplasia involving the corticospinal tracts | 2 | DPYS CL E G H | 1807 | 222748 | Dihydropyrimidinase deficiency | 222748 | C0342803 | OMIM | 1 | | 210 | 3013 | 613326 |
HP:0002062 | HP:0007348 | Hypoplasia of the pyramidal tract | 2 | DPYS CL E G H | 1807 | 222748 | Dihydropyrimidinase deficiency | 222748 | C0342803 | OMIM | 1 | | 210 | 3013 | 613326 |
HP:0002062 | HP:0100322 | Aplasia of the pyramidal tract | 2 | DPYS CL E G H | 1807 | 222748 | Dihydropyrimidinase deficiency | 222748 | C0342803 | OMIM | 1 | | 210 | 3013 | 613326 |
HP:0002062 | HP:0007372 | Atrophy/Degeneration involving the corticospinal tracts | 2 | DPYS CL E G H | 1807 | 222748 | Dihydropyrimidinase deficiency | 222748 | C0342803 | OMIM | 1 | | 210 | 3013 | 613326 |
HP:0002062 | HP:0008361 | Corticospinal tract pallor | 2 | DPYS CL E G H | 1807 | 222748 | Dihydropyrimidinase deficiency | 222748 | C0342803 | OMIM | 1 | | 210 | 3013 | 613326 |
HP:0002062 | HP:0007372 | Atrophy/Degeneration involving the corticospinal tracts | 2 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 777 | 4137 | 605379 |
HP:0002062 | HP:0008361 | Corticospinal tract pallor | 2 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 777 | 4137 | 605379 |
HP:0002062 | HP:0007365 | Aplasia/Hypoplasia involving the corticospinal tracts | 2 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 777 | 4137 | 605379 |
HP:0002062 | HP:0007348 | Hypoplasia of the pyramidal tract | 2 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 777 | 4137 | 605379 |
HP:0002062 | HP:0100322 | Aplasia of the pyramidal tract | 2 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 777 | 4137 | 605379 |
HP:0002062 | HP:0008361 | Corticospinal tract pallor | 2 | KCNC3 CL E G H | 3748 | 605259 | Spinocerebellar ataxia 13 | 605259 | C1854488 | OMIM | 1 | | 311 | 6235 | 176264 |
HP:0002062 | HP:0007372 | Atrophy/Degeneration involving the corticospinal tracts | 2 | KCNC3 CL E G H | 3748 | 605259 | Spinocerebellar ataxia 13 | 605259 | C1854488 | OMIM | 1 | | 311 | 6235 | 176264 |
HP:0002062 | HP:0007365 | Aplasia/Hypoplasia involving the corticospinal tracts | 2 | KCNC3 CL E G H | 3748 | 605259 | Spinocerebellar ataxia 13 | 605259 | C1854488 | OMIM | 1 | | 311 | 6235 | 176264 |
HP:0002062 | HP:0007348 | Hypoplasia of the pyramidal tract | 2 | KCNC3 CL E G H | 3748 | 605259 | Spinocerebellar ataxia 13 | 605259 | C1854488 | OMIM | 1 | | 311 | 6235 | 176264 |
HP:0002062 | HP:0100322 | Aplasia of the pyramidal tract | 2 | KCNC3 CL E G H | 3748 | 605259 | Spinocerebellar ataxia 13 | 605259 | C1854488 | OMIM | 1 | | 311 | 6235 | 176264 |
HP:0002062 | HP:0007372 | Atrophy/Degeneration involving the corticospinal tracts | 2 | L2HGDH CL E G H | 79944 | 236792 | L-2-hydroxyglutaric aciduria | 236792 | C1855995 | OMIM | 1 | | 253 | 20499 | 609584 |
HP:0002062 | HP:0008361 | Corticospinal tract pallor | 2 | L2HGDH CL E G H | 79944 | 236792 | L-2-hydroxyglutaric aciduria | 236792 | C1855995 | OMIM | 1 | | 253 | 20499 | 609584 |
HP:0002062 | HP:0007365 | Aplasia/Hypoplasia involving the corticospinal tracts | 2 | L2HGDH CL E G H | 79944 | 236792 | L-2-hydroxyglutaric aciduria | 236792 | C1855995 | OMIM | 1 | | 253 | 20499 | 609584 |
HP:0002062 | HP:0007348 | Hypoplasia of the pyramidal tract | 2 | L2HGDH CL E G H | 79944 | 236792 | L-2-hydroxyglutaric aciduria | 236792 | C1855995 | OMIM | 1 | | 253 | 20499 | 609584 |
HP:0002062 | HP:0100322 | Aplasia of the pyramidal tract | 2 | L2HGDH CL E G H | 79944 | 236792 | L-2-hydroxyglutaric aciduria | 236792 | C1855995 | OMIM | 1 | | 253 | 20499 | 609584 |
HP:0002062 | HP:0007372 | Atrophy/Degeneration involving the corticospinal tracts | 2 | MAPT CL E G H | 4137 | 260540 | Parkinson-dementia syndrome | 260540 | C1850077 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0002062 | HP:0008361 | Corticospinal tract pallor | 2 | MAPT CL E G H | 4137 | 260540 | Parkinson-dementia syndrome | 260540 | C1850077 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0002062 | HP:0007348 | Hypoplasia of the pyramidal tract | 2 | MAPT CL E G H | 4137 | 260540 | Parkinson-dementia syndrome | 260540 | C1850077 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0002062 | HP:0007365 | Aplasia/Hypoplasia involving the corticospinal tracts | 2 | MAPT CL E G H | 4137 | 260540 | Parkinson-dementia syndrome | 260540 | C1850077 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0002062 | HP:0100322 | Aplasia of the pyramidal tract | 2 | MAPT CL E G H | 4137 | 260540 | Parkinson-dementia syndrome | 260540 | C1850077 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0002062 | HP:0007365 | Aplasia/Hypoplasia involving the corticospinal tracts | 2 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0002062 | HP:0007348 | Hypoplasia of the pyramidal tract | 2 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0002062 | HP:0100322 | Aplasia of the pyramidal tract | 2 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0002062 | HP:0008361 | Corticospinal tract pallor | 2 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0002062 | HP:0007372 | Atrophy/Degeneration involving the corticospinal tracts | 2 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0002062 | HP:0008361 | Corticospinal tract pallor | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0002062 | HP:0007372 | Atrophy/Degeneration involving the corticospinal tracts | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0002062 | HP:0007365 | Aplasia/Hypoplasia involving the corticospinal tracts | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0002062 | HP:0007348 | Hypoplasia of the pyramidal tract | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0002062 | HP:0100322 | Aplasia of the pyramidal tract | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0002062 | HP:0007372 | Atrophy/Degeneration involving the corticospinal tracts | 2 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002062 | HP:0008361 | Corticospinal tract pallor | 2 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002062 | HP:0007365 | Aplasia/Hypoplasia involving the corticospinal tracts | 2 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002062 | HP:0007348 | Hypoplasia of the pyramidal tract | 2 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002062 | HP:0100322 | Aplasia of the pyramidal tract | 2 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002062 | HP:0100322 | Aplasia of the pyramidal tract | 2 | SLC25A15 CL E G H | 10166 | 238970 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 238970 | C0268540 | OMIM | 1 | | 405 | 10985 | 603861 |
HP:0002062 | HP:0007372 | Atrophy/Degeneration involving the corticospinal tracts | 2 | SLC25A15 CL E G H | 10166 | 238970 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 238970 | C0268540 | OMIM | 1 | | 405 | 10985 | 603861 |
HP:0002062 | HP:0008361 | Corticospinal tract pallor | 2 | SLC25A15 CL E G H | 10166 | 238970 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 238970 | C0268540 | OMIM | 1 | | 405 | 10985 | 603861 |
HP:0002062 | HP:0007365 | Aplasia/Hypoplasia involving the corticospinal tracts | 2 | SLC25A15 CL E G H | 10166 | 238970 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 238970 | C0268540 | OMIM | 1 | | 405 | 10985 | 603861 |
HP:0002062 | HP:0007348 | Hypoplasia of the pyramidal tract | 2 | SLC25A15 CL E G H | 10166 | 238970 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 238970 | C0268540 | OMIM | 1 | | 405 | 10985 | 603861 |
HP:0002062 | HP:0100322 | Aplasia of the pyramidal tract | 2 | SLC2A1 CL E G H | 6513 | 601042 | Dystonia 9 | 601042 | C1832855 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0002062 | HP:0007372 | Atrophy/Degeneration involving the corticospinal tracts | 2 | SLC2A1 CL E G H | 6513 | 601042 | Dystonia 9 | 601042 | C1832855 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0002062 | HP:0008361 | Corticospinal tract pallor | 2 | SLC2A1 CL E G H | 6513 | 601042 | Dystonia 9 | 601042 | C1832855 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0002062 | HP:0007365 | Aplasia/Hypoplasia involving the corticospinal tracts | 2 | SLC2A1 CL E G H | 6513 | 601042 | Dystonia 9 | 601042 | C1832855 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0002062 | HP:0007348 | Hypoplasia of the pyramidal tract | 2 | SLC2A1 CL E G H | 6513 | 601042 | Dystonia 9 | 601042 | C1832855 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0002062 | HP:0007365 | Aplasia/Hypoplasia involving the corticospinal tracts | 2 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 583 | 11049 | 126455 |
HP:0002062 | HP:0007348 | Hypoplasia of the pyramidal tract | 2 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 583 | 11049 | 126455 |
HP:0002062 | HP:0100322 | Aplasia of the pyramidal tract | 2 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 583 | 11049 | 126455 |
HP:0002062 | HP:0008361 | Corticospinal tract pallor | 2 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 583 | 11049 | 126455 |
HP:0002062 | HP:0007372 | Atrophy/Degeneration involving the corticospinal tracts | 2 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 583 | 11049 | 126455 |
HP:0002062 | HP:0007372 | Atrophy/Degeneration involving the corticospinal tracts | 2 | TREX1 CL E G H | 11277 | 225750 | Aicardi Goutieres syndrome 1 | 225750 | C0796126 | OMIM | 1 | | 418 | 12269 | 606609 |
HP:0002062 | HP:0008361 | Corticospinal tract pallor | 2 | TREX1 CL E G H | 11277 | 225750 | Aicardi Goutieres syndrome 1 | 225750 | C0796126 | OMIM | 1 | | 418 | 12269 | 606609 |
HP:0002062 | HP:0007348 | Hypoplasia of the pyramidal tract | 2 | TREX1 CL E G H | 11277 | 225750 | Aicardi Goutieres syndrome 1 | 225750 | C0796126 | OMIM | 1 | | 418 | 12269 | 606609 |
HP:0002062 | HP:0007365 | Aplasia/Hypoplasia involving the corticospinal tracts | 2 | TREX1 CL E G H | 11277 | 225750 | Aicardi Goutieres syndrome 1 | 225750 | C0796126 | OMIM | 1 | | 418 | 12269 | 606609 |
HP:0002062 | HP:0100322 | Aplasia of the pyramidal tract | 2 | TREX1 CL E G H | 11277 | 225750 | Aicardi Goutieres syndrome 1 | 225750 | C0796126 | OMIM | 1 | | 418 | 12269 | 606609 |
HP:0002062 | HP:0100322 | Aplasia of the pyramidal tract | 2 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 1 | | 359 | 12649 | 605704 |
HP:0002062 | HP:0007372 | Atrophy/Degeneration involving the corticospinal tracts | 2 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 1 | | 359 | 12649 | 605704 |
HP:0002062 | HP:0008361 | Corticospinal tract pallor | 2 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 1 | | 359 | 12649 | 605704 |
HP:0002062 | HP:0007365 | Aplasia/Hypoplasia involving the corticospinal tracts | 2 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 1 | | 359 | 12649 | 605704 |
HP:0002062 | HP:0007348 | Hypoplasia of the pyramidal tract | 2 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 1 | | 359 | 12649 | 605704 |
HP:0002062 | HP:0002314 | Degeneration of the lateral corticospinal tracts | 3 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 116 | 10549 | 611150 |
HP:0002062 | HP:0007117 | Corticospinal tract atrophy | 3 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 116 | 10549 | 611150 |
HP:0002062 | HP:0007016 | Corticospinal tract hypoplasia | 3 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 116 | 10549 | 611150 |
HP:0002062 | HP:0002314 | Degeneration of the lateral corticospinal tracts | 3 | ATXN8 CL E G H | 724066 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 2 | 32925 | 613289 |
HP:0002062 | HP:0007117 | Corticospinal tract atrophy | 3 | ATXN8 CL E G H | 724066 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 2 | 32925 | 613289 |
HP:0002062 | HP:0007016 | Corticospinal tract hypoplasia | 3 | ATXN8 CL E G H | 724066 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 2 | 32925 | 613289 |
HP:0002062 | HP:0007016 | Corticospinal tract hypoplasia | 3 | ATXN8OS CL E G H | 6315 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 87 | 10561 | 603680 |
HP:0002062 | HP:0002314 | Degeneration of the lateral corticospinal tracts | 3 | ATXN8OS CL E G H | 6315 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 87 | 10561 | 603680 |
HP:0002062 | HP:0007117 | Corticospinal tract atrophy | 3 | ATXN8OS CL E G H | 6315 | 608768 | Spinocerebellar ataxia 8 | 608768 | C1837454 | OMIM | 1 | | 87 | 10561 | 603680 |
HP:0002062 | HP:0002314 | Degeneration of the lateral corticospinal tracts | 3 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0002062 | HP:0007117 | Corticospinal tract atrophy | 3 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0002062 | HP:0007016 | Corticospinal tract hypoplasia | 3 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0002062 | HP:0002314 | Degeneration of the lateral corticospinal tracts | 3 | DPYS CL E G H | 1807 | 222748 | Dihydropyrimidinase deficiency | 222748 | C0342803 | OMIM | 1 | | 210 | 3013 | 613326 |
HP:0002062 | HP:0007117 | Corticospinal tract atrophy | 3 | DPYS CL E G H | 1807 | 222748 | Dihydropyrimidinase deficiency | 222748 | C0342803 | OMIM | 1 | | 210 | 3013 | 613326 |
HP:0002062 | HP:0007016 | Corticospinal tract hypoplasia | 3 | DPYS CL E G H | 1807 | 222748 | Dihydropyrimidinase deficiency | 222748 | C0342803 | OMIM | 1 | | 210 | 3013 | 613326 |
HP:0002062 | HP:0007016 | Corticospinal tract hypoplasia | 3 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 777 | 4137 | 605379 |
HP:0002062 | HP:0002314 | Degeneration of the lateral corticospinal tracts | 3 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 777 | 4137 | 605379 |
HP:0002062 | HP:0007117 | Corticospinal tract atrophy | 3 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 777 | 4137 | 605379 |
HP:0002062 | HP:0007016 | Corticospinal tract hypoplasia | 3 | KCNC3 CL E G H | 3748 | 605259 | Spinocerebellar ataxia 13 | 605259 | C1854488 | OMIM | 1 | | 311 | 6235 | 176264 |
HP:0002062 | HP:0002314 | Degeneration of the lateral corticospinal tracts | 3 | KCNC3 CL E G H | 3748 | 605259 | Spinocerebellar ataxia 13 | 605259 | C1854488 | OMIM | 1 | | 311 | 6235 | 176264 |
HP:0002062 | HP:0007117 | Corticospinal tract atrophy | 3 | KCNC3 CL E G H | 3748 | 605259 | Spinocerebellar ataxia 13 | 605259 | C1854488 | OMIM | 1 | | 311 | 6235 | 176264 |
HP:0002062 | HP:0007117 | Corticospinal tract atrophy | 3 | L2HGDH CL E G H | 79944 | 236792 | L-2-hydroxyglutaric aciduria | 236792 | C1855995 | OMIM | 1 | | 253 | 20499 | 609584 |
HP:0002062 | HP:0007016 | Corticospinal tract hypoplasia | 3 | L2HGDH CL E G H | 79944 | 236792 | L-2-hydroxyglutaric aciduria | 236792 | C1855995 | OMIM | 1 | | 253 | 20499 | 609584 |
HP:0002062 | HP:0002314 | Degeneration of the lateral corticospinal tracts | 3 | L2HGDH CL E G H | 79944 | 236792 | L-2-hydroxyglutaric aciduria | 236792 | C1855995 | OMIM | 1 | | 253 | 20499 | 609584 |
HP:0002062 | HP:0007117 | Corticospinal tract atrophy | 3 | MAPT CL E G H | 4137 | 260540 | Parkinson-dementia syndrome | 260540 | C1850077 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0002062 | HP:0007016 | Corticospinal tract hypoplasia | 3 | MAPT CL E G H | 4137 | 260540 | Parkinson-dementia syndrome | 260540 | C1850077 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0002062 | HP:0002314 | Degeneration of the lateral corticospinal tracts | 3 | MAPT CL E G H | 4137 | 260540 | Parkinson-dementia syndrome | 260540 | C1850077 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0002062 | HP:0002314 | Degeneration of the lateral corticospinal tracts | 3 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0002062 | HP:0007117 | Corticospinal tract atrophy | 3 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0002062 | HP:0007016 | Corticospinal tract hypoplasia | 3 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0002062 | HP:0007117 | Corticospinal tract atrophy | 3 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0002062 | HP:0007016 | Corticospinal tract hypoplasia | 3 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0002062 | HP:0002314 | Degeneration of the lateral corticospinal tracts | 3 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0002062 | HP:0007117 | Corticospinal tract atrophy | 3 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002062 | HP:0007016 | Corticospinal tract hypoplasia | 3 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002062 | HP:0002314 | Degeneration of the lateral corticospinal tracts | 3 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0002062 | HP:0002314 | Degeneration of the lateral corticospinal tracts | 3 | SLC25A15 CL E G H | 10166 | 238970 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 238970 | C0268540 | OMIM | 1 | | 405 | 10985 | 603861 |
HP:0002062 | HP:0007117 | Corticospinal tract atrophy | 3 | SLC25A15 CL E G H | 10166 | 238970 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 238970 | C0268540 | OMIM | 1 | | 405 | 10985 | 603861 |
HP:0002062 | HP:0007016 | Corticospinal tract hypoplasia | 3 | SLC25A15 CL E G H | 10166 | 238970 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 238970 | C0268540 | OMIM | 1 | | 405 | 10985 | 603861 |
HP:0002062 | HP:0002314 | Degeneration of the lateral corticospinal tracts | 3 | SLC2A1 CL E G H | 6513 | 601042 | Dystonia 9 | 601042 | C1832855 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0002062 | HP:0007117 | Corticospinal tract atrophy | 3 | SLC2A1 CL E G H | 6513 | 601042 | Dystonia 9 | 601042 | C1832855 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0002062 | HP:0007016 | Corticospinal tract hypoplasia | 3 | SLC2A1 CL E G H | 6513 | 601042 | Dystonia 9 | 601042 | C1832855 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0002062 | HP:0002314 | Degeneration of the lateral corticospinal tracts | 3 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 583 | 11049 | 126455 |
HP:0002062 | HP:0007117 | Corticospinal tract atrophy | 3 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 583 | 11049 | 126455 |
HP:0002062 | HP:0007016 | Corticospinal tract hypoplasia | 3 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 583 | 11049 | 126455 |
HP:0002062 | HP:0007016 | Corticospinal tract hypoplasia | 3 | TREX1 CL E G H | 11277 | 225750 | Aicardi Goutieres syndrome 1 | 225750 | C0796126 | OMIM | 1 | | 418 | 12269 | 606609 |
HP:0002062 | HP:0002314 | Degeneration of the lateral corticospinal tracts | 3 | TREX1 CL E G H | 11277 | 225750 | Aicardi Goutieres syndrome 1 | 225750 | C0796126 | OMIM | 1 | | 418 | 12269 | 606609 |
HP:0002062 | HP:0007117 | Corticospinal tract atrophy | 3 | TREX1 CL E G H | 11277 | 225750 | Aicardi Goutieres syndrome 1 | 225750 | C0796126 | OMIM | 1 | | 418 | 12269 | 606609 |
HP:0002062 | HP:0002314 | Degeneration of the lateral corticospinal tracts | 3 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 1 | | 359 | 12649 | 605704 |
HP:0002062 | HP:0007117 | Corticospinal tract atrophy | 3 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 1 | | 359 | 12649 | 605704 |
HP:0002062 | HP:0007016 | Corticospinal tract hypoplasia | 3 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 1 | | 359 | 12649 | 605704 |
HPO disease - gene - phenotype less frequent non-typical associations: |