Human Phenotype Ontology 
Grandparent Node:
expandAbnormal cerebral subcortex morphology (HP:0010993)help
Parent Node:
expandAbnormal basal ganglia morphology (HP:0002134)help
..Starting node
..expandAbnormal basal ganglia MRI signal intensity (HP:0012751)help
Term ID: 12751
Name: Abnormal basal ganglia MRI signal intensity
Synonym:
Definition: A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia.
Comments:
Reference: HP:0012751
Genes and Diseases:
 
       Child Nodes:
........expandFocal T2 hyperintense basal ganglia lesion (HP:0007183) help
........expandFocal T2 hypointense basal ganglia lesion (HP:0012752) help
........expandT2 hypointense basal ganglia (HP:0012753) help

 Sister Nodes: 
..expandAbnormal corpus striatum morphology (HP:0010994) help
..expandAbnormal globus pallidus morphology (HP:0002453) help
..expandAbnormal substantia nigra morphology (HP:0045007) help
..expandBasal ganglia calcification (HP:0002135) help
..expandBasal ganglia cysts (HP:0006799) help
..expandBasal ganglia edema (HP:0025039) help
..expandBasal ganglia gliosis (HP:0006999) help
..expandBasal ganglia necrosis (HP:0012128) help
..expandBilateral basal ganglia lesions (HP:0007146) help
..expandCavitation of the basal ganglia (HP:0007007) help
..expandDysgenesis of the basal ganglia (HP:0025102) help
..expandHemiballismus (HP:0100248) help
..expandLarge basal ganglia (HP:0007048) help
..expandNeuronal loss in basal ganglia (HP:0200147) help
..expandSmall basal ganglia (HP:0012697) help
..expandStatus cribrosum (HP:0025012) help
..expandSymmetric lesions of the basal ganglia (HP:0007039) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0ALG2 CL E G H8536523159ORPHA:79326ALG2-CDGHP:0040283 - Occasional46
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0ASPA CL E G H443756ORPHA:314918Mild Canavan diseaseHP:0040283 - Occasional48
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0ATP6 CL E G H45087414ORPHA:644NARP syndromeHP:0040282 - Frequent
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0COQ2 CL E G H2723525223ORPHA:255249Leigh syndrome with nephrotic syndrome54
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0COQ8A CL E G H5699716812ORPHA:139485Autosomal recessive ataxia due to ubiquinone deficiency136
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophy104
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophy33
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0ETHE1 CL E G H2347423287OMIM:602473Encephalopathy, ethylmalonic42
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0ETHE1 CL E G H2347423287ORPHA:51188Ethylmalonic encephalopathyHP:0040282 - Frequent42
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0FASTKD2 CL E G H2286829160OMIM:618855COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44122
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophy61
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0GCDH CL E G H26394189ORPHA:25Glutaryl-CoA dehydrogenase deficiency115
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0GFAP CL E G H26704235ORPHA:363717Alexander disease type I188
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1120
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 23HP:0040283 - Occasional30
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophy21
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type191
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0MFF CL E G H5694724858ORPHA:485421MFF-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040282 - Frequent17
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signsHP:0040282 - Frequent14
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0MTFMT CL E G H12326329666ORPHA:255241Leigh syndrome with leukodystrophy29
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiencyHP:0040282 - Frequent14
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0NDUFA10 CL E G H47057684ORPHA:255241Leigh syndrome with leukodystrophy91
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0NDUFA12 CL E G H5596723987ORPHA:255241Leigh syndrome with leukodystrophy7
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0NDUFA13 CL E G H5107917194ORPHA:255241Leigh syndrome with leukodystrophy3
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0NDUFA2 CL E G H46957685ORPHA:255241Leigh syndrome with leukodystrophy19
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0NDUFA4 CL E G H46977687ORPHA:255241Leigh syndrome with leukodystrophy4
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0NDUFA9 CL E G H47047693ORPHA:255241Leigh syndrome with leukodystrophy27
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0NDUFAF2 CL E G H9194228086ORPHA:255241Leigh syndrome with leukodystrophy26
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0NDUFAF5 CL E G H7913315899ORPHA:255241Leigh syndrome with leukodystrophy34
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0NDUFAF6 CL E G H13768228625ORPHA:255241Leigh syndrome with leukodystrophy39
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0NDUFS1 CL E G H47197707ORPHA:255241Leigh syndrome with leukodystrophy81
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0NDUFS2 CL E G H47207708ORPHA:255241Leigh syndrome with leukodystrophy65
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0NDUFS3 CL E G H47227710ORPHA:255241Leigh syndrome with leukodystrophy22
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0NDUFS4 CL E G H47247711ORPHA:255241Leigh syndrome with leukodystrophy27
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0NDUFS7 CL E G H3742917714ORPHA:255241Leigh syndrome with leukodystrophy38
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0NDUFS8 CL E G H47287715ORPHA:255241Leigh syndrome with leukodystrophy42
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0NDUFV1 CL E G H47237716ORPHA:255241Leigh syndrome with leukodystrophy74
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0NDUFV2 CL E G H47297717ORPHA:255241Leigh syndrome with leukodystrophy27
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0PDE10A CL E G H108468772ORPHA:494541Childhood-onset benign chorea with striatal involvement5
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0PDHA1 CL E G H51608806ORPHA:255241Leigh syndrome with leukodystrophy88
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0PDSS2 CL E G H5710723041ORPHA:255249Leigh syndrome with nephrotic syndrome54
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0PET100 CL E G H10013180140038ORPHA:255241Leigh syndrome with leukodystrophy6
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob disease69
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0SDHA CL E G H638910680ORPHA:255241Leigh syndrome with leukodystrophy304
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0SLC19A3 CL E G H8070416266ORPHA:255241Leigh syndrome with leukodystrophy110
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndromeHP:0040282 - Frequent42
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11287
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040281 - Very frequent60
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0SURF1 CL E G H683411474ORPHA:255241Leigh syndrome with leukodystrophy73
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0TACO1 CL E G H5120424316ORPHA:255241Leigh syndrome with leukodystrophy23
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0TACO1 CL E G H5120424316OMIM:619052MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN823
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0012751HP:0012751Abnormal basal ganglia MRI signal intensity0VPS11 CL E G H5582314583OMIM:619637DYSTONIA 32; DYT321
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1COQ2 CL E G H2723525223ORPHA:255249Leigh syndrome with nephrotic syndromeHP:0040282 - Frequent54
HP:0012751HP:0012752Focal T2 hypointense basal ganglia lesion1COQ8A CL E G H5699716812ORPHA:139485Autosomal recessive ataxia due to ubiquinone deficiencyHP:0040282 - Frequent136
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophyHP:0040281 - Very frequent104
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophyHP:0040281 - Very frequent33
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1ETHE1 CL E G H2347423287OMIM:602473Encephalopathy, ethylmalonic.42
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophyHP:0040281 - Very frequent61
HP:0012751HP:0012753T2 hypointense basal ganglia1GCDH CL E G H26394189ORPHA:25Glutaryl-CoA dehydrogenase deficiencyHP:0040282 - Frequent115
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1GFAP CL E G H26704235ORPHA:363717Alexander disease type I188
HP:0012751HP:0012753T2 hypointense basal ganglia1GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1HP:0040282 - Frequent120
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophyHP:0040281 - Very frequent21
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeHP:0040282 - Frequent191
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1MTFMT CL E G H12326329666ORPHA:255241Leigh syndrome with leukodystrophyHP:0040281 - Very frequent29
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1NDUFA10 CL E G H47057684ORPHA:255241Leigh syndrome with leukodystrophyHP:0040281 - Very frequent91
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1NDUFA12 CL E G H5596723987ORPHA:255241Leigh syndrome with leukodystrophyHP:0040281 - Very frequent7
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1NDUFA13 CL E G H5107917194ORPHA:255241Leigh syndrome with leukodystrophyHP:0040281 - Very frequent3
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1NDUFA2 CL E G H46957685ORPHA:255241Leigh syndrome with leukodystrophyHP:0040281 - Very frequent19
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1NDUFA4 CL E G H46977687ORPHA:255241Leigh syndrome with leukodystrophyHP:0040281 - Very frequent4
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1NDUFA9 CL E G H47047693ORPHA:255241Leigh syndrome with leukodystrophyHP:0040281 - Very frequent27
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1NDUFAF2 CL E G H9194228086ORPHA:255241Leigh syndrome with leukodystrophyHP:0040281 - Very frequent26
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1NDUFAF5 CL E G H7913315899ORPHA:255241Leigh syndrome with leukodystrophyHP:0040281 - Very frequent34
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1NDUFAF6 CL E G H13768228625ORPHA:255241Leigh syndrome with leukodystrophyHP:0040281 - Very frequent39
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1NDUFS1 CL E G H47197707ORPHA:255241Leigh syndrome with leukodystrophyHP:0040281 - Very frequent81
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1NDUFS2 CL E G H47207708ORPHA:255241Leigh syndrome with leukodystrophyHP:0040281 - Very frequent65
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1NDUFS3 CL E G H47227710ORPHA:255241Leigh syndrome with leukodystrophyHP:0040281 - Very frequent22
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1NDUFS4 CL E G H47247711ORPHA:255241Leigh syndrome with leukodystrophyHP:0040281 - Very frequent27
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0012751HP:0012752Focal T2 hypointense basal ganglia lesion1NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1NDUFS7 CL E G H3742917714ORPHA:255241Leigh syndrome with leukodystrophyHP:0040281 - Very frequent38
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1NDUFS8 CL E G H47287715ORPHA:255241Leigh syndrome with leukodystrophyHP:0040281 - Very frequent42
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1NDUFV1 CL E G H47237716ORPHA:255241Leigh syndrome with leukodystrophyHP:0040281 - Very frequent74
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1NDUFV2 CL E G H47297717ORPHA:255241Leigh syndrome with leukodystrophyHP:0040281 - Very frequent27
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1PDE10A CL E G H108468772ORPHA:494541Childhood-onset benign chorea with striatal involvement5
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1PDHA1 CL E G H51608806ORPHA:255241Leigh syndrome with leukodystrophyHP:0040281 - Very frequent88
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1PDSS2 CL E G H5710723041ORPHA:255249Leigh syndrome with nephrotic syndromeHP:0040282 - Frequent54
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1PET100 CL E G H10013180140038ORPHA:255241Leigh syndrome with leukodystrophyHP:0040281 - Very frequent6
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040282 - Frequent69
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1SDHA CL E G H638910680ORPHA:255241Leigh syndrome with leukodystrophyHP:0040281 - Very frequent304
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1SLC19A3 CL E G H8070416266ORPHA:255241Leigh syndrome with leukodystrophyHP:0040281 - Very frequent110
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11HP:0040283 - Occasional287
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1SURF1 CL E G H683411474ORPHA:255241Leigh syndrome with leukodystrophyHP:0040281 - Very frequent73
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1TACO1 CL E G H5120424316ORPHA:255241Leigh syndrome with leukodystrophyHP:0040281 - Very frequent23
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1TACO1 CL E G H5120424316OMIM:619052MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN823
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0012751HP:0007183Focal T2 hyperintense basal ganglia lesion1TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0012751HP:0012753T2 hypointense basal ganglia1VPS11 CL E G H5582314583OMIM:619637DYSTONIA 32; DYT321
HP:0012751HP:0031206Striatal T2 hyperintensity2MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0012751HP:0031206Striatal T2 hyperintensity2PDE10A CL E G H108468772ORPHA:494541Childhood-onset benign chorea with striatal involvementHP:0040282 - Frequent5


Genes (62) :ALG2 ASPA ATP6 COQ2 COQ8A COX15 ECHS1 ETHE1 FASTKD2 FOXRED1 GCDH GFAP GLB1 GLI3 GTPBP3 LIPT1 LRPPRC MECR MFF MICU1 MTFMT NADK2 ND1 ND2 ND3 ND4 ND5 ND6 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF5 NDUFAF6 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 PDE10A PDHA1 PDSS2 PET100 PRNP SDHA SLC19A3 SLC30A10 SPG11 SUCLG1 SURF1 TACO1 TRNK TRNL1 TRNV TRNW VPS11

Diseases (30) :ORPHA:79326 OMIM:607906 ORPHA:314918 ORPHA:255210 ORPHA:644 ORPHA:255249 ORPHA:139485 ORPHA:255241 OMIM:602473 ORPHA:51188 OMIM:618855 ORPHA:25 ORPHA:363717 ORPHA:79255 ORPHA:672 ORPHA:444013 ORPHA:70472 ORPHA:508093 ORPHA:485421 ORPHA:401768 ORPHA:431361 OMIM:252010 ORPHA:494541 ORPHA:282166 ORPHA:309854 ORPHA:2822 ORPHA:17 OMIM:245400 OMIM:619052 OMIM:619637
 

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