Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | ALG2 CL E G H | 85365 | 23159 | ORPHA:79326 | ALG2-CDG | HP:0040283 - Occasional | | | 46 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | ALG2 CL E G H | 85365 | 23159 | OMIM:607906 | Congenital disorder of glycosylation, type Ii | | | | 46 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | ASPA CL E G H | 443 | 756 | ORPHA:314918 | Mild Canavan disease | HP:0040283 - Occasional | | | 48 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:644 | NARP syndrome | HP:0040282 - Frequent | | | | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:255249 | Leigh syndrome with nephrotic syndrome | | | | 54 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | COQ8A CL E G H | 56997 | 16812 | ORPHA:139485 | Autosomal recessive ataxia due to ubiquinone deficiency | | | | 136 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | COX15 CL E G H | 1355 | 2263 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 104 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | ECHS1 CL E G H | 1892 | 3151 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 33 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | ETHE1 CL E G H | 23474 | 23287 | OMIM:602473 | Encephalopathy, ethylmalonic | | | | 42 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | ETHE1 CL E G H | 23474 | 23287 | ORPHA:51188 | Ethylmalonic encephalopathy | HP:0040282 - Frequent | | | 42 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | FASTKD2 CL E G H | 22868 | 29160 | OMIM:618855 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44 | | | | 122 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 61 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | GCDH CL E G H | 2639 | 4189 | ORPHA:25 | Glutaryl-CoA dehydrogenase deficiency | | | | 115 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | GFAP CL E G H | 2670 | 4235 | ORPHA:363717 | Alexander disease type I | | | | 188 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | | | | 120 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040282 - Frequent | | | 270 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | GTPBP3 CL E G H | 84705 | 14880 | ORPHA:444013 | Combined oxidative phosphorylation defect type 23 | HP:0040283 - Occasional | | | 30 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | LIPT1 CL E G H | 51601 | 29569 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 21 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | LRPPRC CL E G H | 10128 | 15714 | ORPHA:70472 | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | | | | 191 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | MECR CL E G H | 51102 | 19691 | ORPHA:508093 | MEPAN syndrome | | | | 6 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | MFF CL E G H | 56947 | 24858 | ORPHA:485421 | MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect | HP:0040282 - Frequent | | | 17 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | MICU1 CL E G H | 10367 | 1530 | ORPHA:401768 | Proximal myopathy with extrapyramidal signs | HP:0040282 - Frequent | | | 14 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | MTFMT CL E G H | 123263 | 29666 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 29 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | NADK2 CL E G H | 133686 | 26404 | ORPHA:431361 | Progressive encephalopathy with leukodystrophy due to DECR deficiency | HP:0040282 - Frequent | | | 14 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | NDUFA10 CL E G H | 4705 | 7684 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 91 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | NDUFA12 CL E G H | 55967 | 23987 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 7 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | NDUFA13 CL E G H | 51079 | 17194 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 3 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | NDUFA2 CL E G H | 4695 | 7685 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 19 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | NDUFA4 CL E G H | 4697 | 7687 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 4 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | NDUFA9 CL E G H | 4704 | 7693 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 27 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 26 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 34 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 39 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 81 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 65 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 22 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 27 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | | | | 27 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 38 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 42 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 74 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 27 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | PDE10A CL E G H | 10846 | 8772 | ORPHA:494541 | Childhood-onset benign chorea with striatal involvement | | | | 5 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 88 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | PDSS2 CL E G H | 57107 | 23041 | ORPHA:255249 | Leigh syndrome with nephrotic syndrome | | | | 54 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | PET100 CL E G H | 100131801 | 40038 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 6 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:282166 | Inherited Creutzfeldt-Jakob disease | | | | 69 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 304 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | SLC19A3 CL E G H | 80704 | 16266 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 110 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | SLC30A10 CL E G H | 55532 | 25355 | ORPHA:309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | HP:0040282 - Frequent | | | 42 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | SPG11 CL E G H | 80208 | 11226 | ORPHA:2822 | Autosomal recessive spastic paraplegia type 11 | | | | 287 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | SUCLG1 CL E G H | 8802 | 11449 | ORPHA:17 | Fatal infantile lactic acidosis with methylmalonic aciduria | HP:0040281 - Very frequent | | | 60 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | SUCLG1 CL E G H | 8802 | 11449 | OMIM:245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | | | | 60 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | SURF1 CL E G H | 6834 | 11474 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 73 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | TACO1 CL E G H | 51204 | 24316 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 23 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | TACO1 CL E G H | 51204 | 24316 | OMIM:619052 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8 | | | | 23 | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0012751 | HP:0012751 | Abnormal basal ganglia MRI signal intensity | 0 | VPS11 CL E G H | 55823 | 14583 | OMIM:619637 | DYSTONIA 32; DYT32 | | | | 1 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | ALG2 CL E G H | 85365 | 23159 | OMIM:607906 | Congenital disorder of glycosylation, type Ii | | | | 46 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | COQ2 CL E G H | 27235 | 25223 | ORPHA:255249 | Leigh syndrome with nephrotic syndrome | HP:0040282 - Frequent | | | 54 | | |
HP:0012751 | HP:0012752 | Focal T2 hypointense basal ganglia lesion | 1 | COQ8A CL E G H | 56997 | 16812 | ORPHA:139485 | Autosomal recessive ataxia due to ubiquinone deficiency | HP:0040282 - Frequent | | | 136 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | COX15 CL E G H | 1355 | 2263 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040281 - Very frequent | | | 104 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | ECHS1 CL E G H | 1892 | 3151 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040281 - Very frequent | | | 33 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | ETHE1 CL E G H | 23474 | 23287 | OMIM:602473 | Encephalopathy, ethylmalonic | . | | | 42 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040281 - Very frequent | | | 61 | | |
HP:0012751 | HP:0012753 | T2 hypointense basal ganglia | 1 | GCDH CL E G H | 2639 | 4189 | ORPHA:25 | Glutaryl-CoA dehydrogenase deficiency | HP:0040282 - Frequent | | | 115 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | GFAP CL E G H | 2670 | 4235 | ORPHA:363717 | Alexander disease type I | | | | 188 | | |
HP:0012751 | HP:0012753 | T2 hypointense basal ganglia | 1 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | HP:0040282 - Frequent | | | 120 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | LIPT1 CL E G H | 51601 | 29569 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040281 - Very frequent | | | 21 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | LRPPRC CL E G H | 10128 | 15714 | ORPHA:70472 | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | HP:0040282 - Frequent | | | 191 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | MECR CL E G H | 51102 | 19691 | ORPHA:508093 | MEPAN syndrome | | | | 6 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | MTFMT CL E G H | 123263 | 29666 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040281 - Very frequent | | | 29 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | NDUFA10 CL E G H | 4705 | 7684 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040281 - Very frequent | | | 91 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | NDUFA12 CL E G H | 55967 | 23987 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040281 - Very frequent | | | 7 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | NDUFA13 CL E G H | 51079 | 17194 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040281 - Very frequent | | | 3 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | NDUFA2 CL E G H | 4695 | 7685 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040281 - Very frequent | | | 19 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | NDUFA4 CL E G H | 4697 | 7687 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040281 - Very frequent | | | 4 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | NDUFA9 CL E G H | 4704 | 7693 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040281 - Very frequent | | | 27 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040281 - Very frequent | | | 26 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040281 - Very frequent | | | 34 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040281 - Very frequent | | | 39 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040281 - Very frequent | | | 81 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040281 - Very frequent | | | 65 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040281 - Very frequent | | | 22 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040281 - Very frequent | | | 27 | | |
HP:0012751 | HP:0012752 | Focal T2 hypointense basal ganglia lesion | 1 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | | | | 27 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | | | | 27 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040281 - Very frequent | | | 38 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040281 - Very frequent | | | 42 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040281 - Very frequent | | | 74 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040281 - Very frequent | | | 27 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | PDE10A CL E G H | 10846 | 8772 | ORPHA:494541 | Childhood-onset benign chorea with striatal involvement | | | | 5 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040281 - Very frequent | | | 88 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | PDSS2 CL E G H | 57107 | 23041 | ORPHA:255249 | Leigh syndrome with nephrotic syndrome | HP:0040282 - Frequent | | | 54 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | PET100 CL E G H | 100131801 | 40038 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040281 - Very frequent | | | 6 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | PRNP CL E G H | 5621 | 9449 | ORPHA:282166 | Inherited Creutzfeldt-Jakob disease | HP:0040282 - Frequent | | | 69 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | SDHA CL E G H | 6389 | 10680 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040281 - Very frequent | | | 304 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | SLC19A3 CL E G H | 80704 | 16266 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040281 - Very frequent | | | 110 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | SPG11 CL E G H | 80208 | 11226 | ORPHA:2822 | Autosomal recessive spastic paraplegia type 11 | HP:0040283 - Occasional | | | 287 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | SUCLG1 CL E G H | 8802 | 11449 | OMIM:245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | | | | 60 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | SURF1 CL E G H | 6834 | 11474 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040281 - Very frequent | | | 73 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | TACO1 CL E G H | 51204 | 24316 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040281 - Very frequent | | | 23 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | TACO1 CL E G H | 51204 | 24316 | OMIM:619052 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8 | | | | 23 | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0012751 | HP:0007183 | Focal T2 hyperintense basal ganglia lesion | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0012751 | HP:0012753 | T2 hypointense basal ganglia | 1 | VPS11 CL E G H | 55823 | 14583 | OMIM:619637 | DYSTONIA 32; DYT32 | | | | 1 | | |
HP:0012751 | HP:0031206 | Striatal T2 hyperintensity | 2 | MECR CL E G H | 51102 | 19691 | ORPHA:508093 | MEPAN syndrome | | | | 6 | | |
HP:0012751 | HP:0031206 | Striatal T2 hyperintensity | 2 | PDE10A CL E G H | 10846 | 8772 | ORPHA:494541 | Childhood-onset benign chorea with striatal involvement | HP:0040282 - Frequent | | | 5 | | |