Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal cerebral morphology (HP:0002060)help
Parent Node:
expand
Abnormality of the cerebral subcortex (HP:0010993)help
..Starting node
..expand
Abnormality of the basal ganglia (HP:0002134)help
Term ID: 2134
Name: Abnormality of the basal ganglia
Synonym: Anomaly of the basal ganglia; Basal ganglia disease
Definition: Abnormality of the basal ganglia.
Comments:
Reference: HP:0002134
Genes and Diseases:
 
       Child Nodes:
........expandBasal ganglia calcification (HP:0002135) help
........expandAbnormal globus pallidus morphology (HP:0002453) help
................... HP:0002454 Eye of the tiger anomaly of globus pallidus
................... HP:0007132 Pallidal degeneration
................... HP:0012677 Iron accumulation in globus pallidus
................... HP:0031627 Globus pallidus calcification
........expandBasal ganglia cysts (HP:0006799) help
........expandBasal ganglia gliosis (HP:0006999) help
........expandCavitation of the basal ganglia (HP:0007007) help
........expandSymmetric lesions of the basal ganglia (HP:0007039) help
........expandLarge basal ganglia (HP:0007048) help
........expandBilateral basal ganglia lesions (HP:0007146) help
........expandAbnormality of the striatum (HP:0010994) help
................... HP:0002339 Abnormality of the caudate nucleus
................... HP:0031206 Striatal T2 hyperintensity
................... HP:0040140 Degeneration of the striatum
........expandBasal ganglia necrosis (HP:0012128) help
........expandSmall basal ganglia (HP:0012697) help
........expandAbnormal basal ganglia MRI signal intensity (HP:0012751) help
................... HP:0007183 Focal T2 hyperintense basal ganglia lesion
................... HP:0012752 Focal T2 hypointense basal ganglia lesion
................... HP:0012753 T2 hypointense basal ganglia
........expandStatus cribrosum (HP:0025012) help
........expandBasal ganglia edema (HP:0025039) help
........expandDysgenesis of the basal ganglia (HP:0025102) help
........expandAbnormality of the substantia nigra (HP:0045007) help
................... HP:0011960 Substantia nigra gliosis
................... HP:0012678 Iron accumulation in substantia nigra
........expandHemiballismus (HP:0100248) help
........expandNeuronal loss in basal ganglia (HP:0200147) help

 Sister Nodes: 
..expandAbnormal cerebral white matter morphology (HP:0002500) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002134HP:0002134Abnormality of the basal ganglia0AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0002134Abnormality of the basal ganglia0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0002134Abnormality of the basal ganglia0FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0002134Abnormality of the basal ganglia0POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0002134Abnormality of the basal ganglia0SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0002134Abnormality of the basal ganglia0SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0002134Abnormality of the basal ganglia0TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0007146Bilateral basal ganglia lesions1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0007048Large basal ganglia1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0007039Symmetric lesions of the basal ganglia1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0006999Basal ganglia gliosis1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0012128Basal ganglia necrosis1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0100248Hemiballismus1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0025012Status cribrosum1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0002135Basal ganglia calcification1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0002453Abnormal globus pallidus morphology1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0012751Abnormal basal ganglia MRI signal intensity1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0025039Basal ganglia edema1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0010994Abnormal corpus striatum morphology1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0025102Dysgenesis of the basal ganglia1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0012697Small basal ganglia1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0045007Abnormal substantia nigra morphology1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0006799Basal ganglia cysts1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0007007Cavitation of the basal ganglia1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0200147Neuronal loss in basal ganglia1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0006799Basal ganglia cysts1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0007007Cavitation of the basal ganglia1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0200147Neuronal loss in basal ganglia1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0007146Bilateral basal ganglia lesions1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0007048Large basal ganglia1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0007039Symmetric lesions of the basal ganglia1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0006999Basal ganglia gliosis1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0012128Basal ganglia necrosis1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0100248Hemiballismus1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0025012Status cribrosum1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0002135Basal ganglia calcification1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0002453Abnormal globus pallidus morphology1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0012751Abnormal basal ganglia MRI signal intensity1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0025039Basal ganglia edema1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0010994Abnormal corpus striatum morphology1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0025102Dysgenesis of the basal ganglia1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0012697Small basal ganglia1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0045007Abnormal substantia nigra morphology1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0045007Abnormal substantia nigra morphology1FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0012751Abnormal basal ganglia MRI signal intensity1FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0025039Basal ganglia edema1FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0010994Abnormal corpus striatum morphology1FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0025102Dysgenesis of the basal ganglia1FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0012697Small basal ganglia1FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0006799Basal ganglia cysts1FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0007007Cavitation of the basal ganglia1FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0200147Neuronal loss in basal ganglia1FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0007146Bilateral basal ganglia lesions1FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0007048Large basal ganglia1FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0007039Symmetric lesions of the basal ganglia1FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0006999Basal ganglia gliosis1FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0012128Basal ganglia necrosis1FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0100248Hemiballismus1FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0025012Status cribrosum1FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0002135Basal ganglia calcification1FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0002453Abnormal globus pallidus morphology1FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0012751Abnormal basal ganglia MRI signal intensity1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0025039Basal ganglia edema1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0010994Abnormal corpus striatum morphology1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0025102Dysgenesis of the basal ganglia1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0012697Small basal ganglia1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0045007Abnormal substantia nigra morphology1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0006799Basal ganglia cysts1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0007007Cavitation of the basal ganglia1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0200147Neuronal loss in basal ganglia1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0007146Bilateral basal ganglia lesions1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0007048Large basal ganglia1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0007039Symmetric lesions of the basal ganglia1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0006999Basal ganglia gliosis1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0012128Basal ganglia necrosis1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0100248Hemiballismus1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0025012Status cribrosum1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0002135Basal ganglia calcification1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0002453Abnormal globus pallidus morphology1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0002453Abnormal globus pallidus morphology1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0012128Basal ganglia necrosis1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0100248Hemiballismus1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0025012Status cribrosum1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0002135Basal ganglia calcification1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0045007Abnormal substantia nigra morphology1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0012751Abnormal basal ganglia MRI signal intensity1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0025039Basal ganglia edema1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0010994Abnormal corpus striatum morphology1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0025102Dysgenesis of the basal ganglia1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0012697Small basal ganglia1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0006799Basal ganglia cysts1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0007007Cavitation of the basal ganglia1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0200147Neuronal loss in basal ganglia1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0006999Basal ganglia gliosis1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0007146Bilateral basal ganglia lesions1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0007048Large basal ganglia1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0007039Symmetric lesions of the basal ganglia1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0006799Basal ganglia cysts1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0007007Cavitation of the basal ganglia1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0200147Neuronal loss in basal ganglia1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0007039Symmetric lesions of the basal ganglia1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0006999Basal ganglia gliosis1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0007146Bilateral basal ganglia lesions1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0007048Large basal ganglia1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0025012Status cribrosum1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0002135Basal ganglia calcification1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0002453Abnormal globus pallidus morphology1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0012128Basal ganglia necrosis1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0100248Hemiballismus1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0012697Small basal ganglia1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0045007Abnormal substantia nigra morphology1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0012751Abnormal basal ganglia MRI signal intensity1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0025039Basal ganglia edema1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0010994Abnormal corpus striatum morphology1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0025102Dysgenesis of the basal ganglia1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0007039Symmetric lesions of the basal ganglia1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0006999Basal ganglia gliosis1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0007146Bilateral basal ganglia lesions1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0007048Large basal ganglia1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0002135Basal ganglia calcification1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0002453Abnormal globus pallidus morphology1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0012128Basal ganglia necrosis1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0100248Hemiballismus1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0025012Status cribrosum1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0045007Abnormal substantia nigra morphology1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0012751Abnormal basal ganglia MRI signal intensity1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0025039Basal ganglia edema1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0010994Abnormal corpus striatum morphology1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0025102Dysgenesis of the basal ganglia1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0012697Small basal ganglia1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0006799Basal ganglia cysts1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0007007Cavitation of the basal ganglia1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0200147Neuronal loss in basal ganglia1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0007132Pallidal degeneration2AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0012752Focal T2 hypointense basal ganglia lesion2AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0002454Eye of the tiger anomaly of globus pallidus2AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0012678Iron accumulation in substantia nigra2AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0007183Focal T2 hyperintense basal ganglia lesion2AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0002339Abnormal caudate nucleus morphology2AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0031982Abnormal putamen morphology2AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0033249Focal substantia nigra T2 hyperintensity2AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0012677Iron accumulation in globus pallidus2AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0031206Striatal T2 hyperintensity2AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0033049Globus pallidus hypointensity on susceptibility-weighted imaging2AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0033048Substantia nigra hypointensity on susceptibility-weighted imaging2AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0012753T2 hypointense basal ganglia2AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0040140Degeneration of the striatum2AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0011960Substantia nigra gliosis2AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0031627Globus pallidus calcification2AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0033048Substantia nigra hypointensity on susceptibility-weighted imaging2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0012753T2 hypointense basal ganglia2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0040140Degeneration of the striatum2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0011960Substantia nigra gliosis2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0031627Globus pallidus calcification2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0012678Iron accumulation in substantia nigra2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0007132Pallidal degeneration2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0012752Focal T2 hypointense basal ganglia lesion2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0002454Eye of the tiger anomaly of globus pallidus2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0012677Iron accumulation in globus pallidus2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0007183Focal T2 hyperintense basal ganglia lesion2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0002339Abnormal caudate nucleus morphology2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0031982Abnormal putamen morphology2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0033249Focal substantia nigra T2 hyperintensity2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0033049Globus pallidus hypointensity on susceptibility-weighted imaging2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0031206Striatal T2 hyperintensity2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0033049Globus pallidus hypointensity on susceptibility-weighted imaging2FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0031206Striatal T2 hyperintensity2FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0031627Globus pallidus calcification2FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0033048Substantia nigra hypointensity on susceptibility-weighted imaging2FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0012753T2 hypointense basal ganglia2FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0040140Degeneration of the striatum2FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0011960Substantia nigra gliosis2FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0002454Eye of the tiger anomaly of globus pallidus2FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0012678Iron accumulation in substantia nigra2FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0007132Pallidal degeneration2FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0012752Focal T2 hypointense basal ganglia lesion2FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0033249Focal substantia nigra T2 hyperintensity2FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0012677Iron accumulation in globus pallidus2FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0007183Focal T2 hyperintense basal ganglia lesion2FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0002339Abnormal caudate nucleus morphology2FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0031982Abnormal putamen morphology2FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0031206Striatal T2 hyperintensity2POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0033049Globus pallidus hypointensity on susceptibility-weighted imaging2POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0012753T2 hypointense basal ganglia2POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0040140Degeneration of the striatum2POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0011960Substantia nigra gliosis2POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0031627Globus pallidus calcification2POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0033048Substantia nigra hypointensity on susceptibility-weighted imaging2POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0012752Focal T2 hypointense basal ganglia lesion2POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0002454Eye of the tiger anomaly of globus pallidus2POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0012678Iron accumulation in substantia nigra2POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0007132Pallidal degeneration2POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0007183Focal T2 hyperintense basal ganglia lesion2POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0002339Abnormal caudate nucleus morphology2POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0031982Abnormal putamen morphology2POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0033249Focal substantia nigra T2 hyperintensity2POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0012677Iron accumulation in globus pallidus2POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0033249Focal substantia nigra T2 hyperintensity2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0012677Iron accumulation in globus pallidus2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0007183Focal T2 hyperintense basal ganglia lesion2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0002339Abnormal caudate nucleus morphology2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0031982Abnormal putamen morphology2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0033049Globus pallidus hypointensity on susceptibility-weighted imaging2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0031206Striatal T2 hyperintensity2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0011960Substantia nigra gliosis2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0031627Globus pallidus calcification2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0033048Substantia nigra hypointensity on susceptibility-weighted imaging2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0012753T2 hypointense basal ganglia2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0040140Degeneration of the striatum2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0002454Eye of the tiger anomaly of globus pallidus2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0012678Iron accumulation in substantia nigra2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0007132Pallidal degeneration2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0012752Focal T2 hypointense basal ganglia lesion2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0040140Degeneration of the striatum2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0011960Substantia nigra gliosis2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0031627Globus pallidus calcification2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0033048Substantia nigra hypointensity on susceptibility-weighted imaging2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0012753T2 hypointense basal ganglia2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0002454Eye of the tiger anomaly of globus pallidus2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0012678Iron accumulation in substantia nigra2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0007132Pallidal degeneration2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0012752Focal T2 hypointense basal ganglia lesion2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0031982Abnormal putamen morphology2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0033249Focal substantia nigra T2 hyperintensity2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0012677Iron accumulation in globus pallidus2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0007183Focal T2 hyperintense basal ganglia lesion2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0002339Abnormal caudate nucleus morphology2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0031206Striatal T2 hyperintensity2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0033049Globus pallidus hypointensity on susceptibility-weighted imaging2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0002454Eye of the tiger anomaly of globus pallidus2TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0012678Iron accumulation in substantia nigra2TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0007132Pallidal degeneration2TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0012752Focal T2 hypointense basal ganglia lesion2TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0033249Focal substantia nigra T2 hyperintensity2TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0012677Iron accumulation in globus pallidus2TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0007183Focal T2 hyperintense basal ganglia lesion2TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0002339Abnormal caudate nucleus morphology2TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0031982Abnormal putamen morphology2TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0031206Striatal T2 hyperintensity2TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0033049Globus pallidus hypointensity on susceptibility-weighted imaging2TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0040140Degeneration of the striatum2TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0011960Substantia nigra gliosis2TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0031627Globus pallidus calcification2TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0033048Substantia nigra hypointensity on susceptibility-weighted imaging2TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0012753T2 hypointense basal ganglia2TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0007374Atrophy/Degeneration involving the caudate nucleus3AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0041052Agenesis of putamen3AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0012644Increased caudate lactate level3AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0007374Atrophy/Degeneration involving the caudate nucleus3AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0041052Agenesis of putamen3AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0012644Increased caudate lactate level3AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0012644Increased caudate lactate level3FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0007374Atrophy/Degeneration involving the caudate nucleus3FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0041052Agenesis of putamen3FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0012644Increased caudate lactate level3POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0007374Atrophy/Degeneration involving the caudate nucleus3POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0041052Agenesis of putamen3POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0012644Increased caudate lactate level3SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0007374Atrophy/Degeneration involving the caudate nucleus3SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0041052Agenesis of putamen3SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0041052Agenesis of putamen3SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0007374Atrophy/Degeneration involving the caudate nucleus3SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0012644Increased caudate lactate level3SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0007374Atrophy/Degeneration involving the caudate nucleus3TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0041052Agenesis of putamen3TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0012644Increased caudate lactate level3TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0002134HP:0002340Caudate atrophy4AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002134HP:0002340Caudate atrophy4AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0002134HP:0002340Caudate atrophy4FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM137613875605317
HP:0002134HP:0002340Caudate atrophy4POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002134HP:0002340Caudate atrophy4SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0002134HP:0002340Caudate atrophy4SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0002134HP:0002340Caudate atrophy4TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002134HP:0002134Abnormality of the basal ganglia0AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0002134Abnormality of the basal ganglia0CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0002134Abnormality of the basal ganglia0KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0002134Abnormality of the basal ganglia0PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0012697Small basal ganglia1AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0045007Abnormal substantia nigra morphology1AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0012751Abnormal basal ganglia MRI signal intensity1AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0025039Basal ganglia edema1AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0010994Abnormal corpus striatum morphology1AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0025102Dysgenesis of the basal ganglia1AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0200147Neuronal loss in basal ganglia1AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0006799Basal ganglia cysts1AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0007007Cavitation of the basal ganglia1AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0007048Large basal ganglia1AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0007039Symmetric lesions of the basal ganglia1AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0006999Basal ganglia gliosis1AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0007146Bilateral basal ganglia lesions1AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0025012Status cribrosum1AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0002135Basal ganglia calcification1AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0002453Abnormal globus pallidus morphology1AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0012128Basal ganglia necrosis1AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0100248Hemiballismus1AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0007146Bilateral basal ganglia lesions1CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0007048Large basal ganglia1CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0007039Symmetric lesions of the basal ganglia1CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0006999Basal ganglia gliosis1CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0100248Hemiballismus1CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0025012Status cribrosum1CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0002135Basal ganglia calcification1CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0002453Abnormal globus pallidus morphology1CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0012128Basal ganglia necrosis1CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0010994Abnormal corpus striatum morphology1CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0025102Dysgenesis of the basal ganglia1CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0012697Small basal ganglia1CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0045007Abnormal substantia nigra morphology1CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0012751Abnormal basal ganglia MRI signal intensity1CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0025039Basal ganglia edema1CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0007007Cavitation of the basal ganglia1CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0200147Neuronal loss in basal ganglia1CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0006799Basal ganglia cysts1CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0007007Cavitation of the basal ganglia1KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0200147Neuronal loss in basal ganglia1KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0006799Basal ganglia cysts1KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0007146Bilateral basal ganglia lesions1KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0007048Large basal ganglia1KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0007039Symmetric lesions of the basal ganglia1KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0006999Basal ganglia gliosis1KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0012128Basal ganglia necrosis1KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0100248Hemiballismus1KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0025012Status cribrosum1KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0002135Basal ganglia calcification1KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0002453Abnormal globus pallidus morphology1KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0010994Abnormal corpus striatum morphology1KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0025102Dysgenesis of the basal ganglia1KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0012697Small basal ganglia1KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0045007Abnormal substantia nigra morphology1KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0012751Abnormal basal ganglia MRI signal intensity1KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0025039Basal ganglia edema1KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0100248Hemiballismus1PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0025012Status cribrosum1PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0002135Basal ganglia calcification1PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0002453Abnormal globus pallidus morphology1PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0012128Basal ganglia necrosis1PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0025102Dysgenesis of the basal ganglia1PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0012697Small basal ganglia1PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0045007Abnormal substantia nigra morphology1PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0012751Abnormal basal ganglia MRI signal intensity1PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0025039Basal ganglia edema1PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0010994Abnormal corpus striatum morphology1PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0200147Neuronal loss in basal ganglia1PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0006799Basal ganglia cysts1PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0007007Cavitation of the basal ganglia1PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0007048Large basal ganglia1PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0007039Symmetric lesions of the basal ganglia1PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0006999Basal ganglia gliosis1PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0007146Bilateral basal ganglia lesions1PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0031206Striatal T2 hyperintensity2AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0033049Globus pallidus hypointensity on susceptibility-weighted imaging2AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0040140Degeneration of the striatum2AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0011960Substantia nigra gliosis2AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0031627Globus pallidus calcification2AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0033048Substantia nigra hypointensity on susceptibility-weighted imaging2AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0012753T2 hypointense basal ganglia2AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0002454Eye of the tiger anomaly of globus pallidus2AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0012678Iron accumulation in substantia nigra2AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0007132Pallidal degeneration2AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0012752Focal T2 hypointense basal ganglia lesion2AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0031982Abnormal putamen morphology2AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0033249Focal substantia nigra T2 hyperintensity2AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0012677Iron accumulation in globus pallidus2AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0007183Focal T2 hyperintense basal ganglia lesion2AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0002339Abnormal caudate nucleus morphology2AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0002454Eye of the tiger anomaly of globus pallidus2CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0012678Iron accumulation in substantia nigra2CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0007132Pallidal degeneration2CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0012752Focal T2 hypointense basal ganglia lesion2CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0002339Abnormal caudate nucleus morphology2CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0031982Abnormal putamen morphology2CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0033249Focal substantia nigra T2 hyperintensity2CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0012677Iron accumulation in globus pallidus2CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0007183Focal T2 hyperintense basal ganglia lesion2CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0031206Striatal T2 hyperintensity2CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0033049Globus pallidus hypointensity on susceptibility-weighted imaging2CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0040140Degeneration of the striatum2CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0011960Substantia nigra gliosis2CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0031627Globus pallidus calcification2CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0033048Substantia nigra hypointensity on susceptibility-weighted imaging2CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0012753T2 hypointense basal ganglia2CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0012753T2 hypointense basal ganglia2KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0040140Degeneration of the striatum2KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0011960Substantia nigra gliosis2KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0031627Globus pallidus calcification2KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0033048Substantia nigra hypointensity on susceptibility-weighted imaging2KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0012752Focal T2 hypointense basal ganglia lesion2KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0002454Eye of the tiger anomaly of globus pallidus2KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0012678Iron accumulation in substantia nigra2KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0007132Pallidal degeneration2KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0002339Abnormal caudate nucleus morphology2KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0031982Abnormal putamen morphology2KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0033249Focal substantia nigra T2 hyperintensity2KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0012677Iron accumulation in globus pallidus2KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0007183Focal T2 hyperintense basal ganglia lesion2KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0031206Striatal T2 hyperintensity2KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0033049Globus pallidus hypointensity on susceptibility-weighted imaging2KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0031982Abnormal putamen morphology2PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0033249Focal substantia nigra T2 hyperintensity2PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0012677Iron accumulation in globus pallidus2PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0007183Focal T2 hyperintense basal ganglia lesion2PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0002339Abnormal caudate nucleus morphology2PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0031206Striatal T2 hyperintensity2PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0033049Globus pallidus hypointensity on susceptibility-weighted imaging2PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0040140Degeneration of the striatum2PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0011960Substantia nigra gliosis2PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0031627Globus pallidus calcification2PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0033048Substantia nigra hypointensity on susceptibility-weighted imaging2PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0012753T2 hypointense basal ganglia2PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0002454Eye of the tiger anomaly of globus pallidus2PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0012678Iron accumulation in substantia nigra2PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0007132Pallidal degeneration2PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0012752Focal T2 hypointense basal ganglia lesion2PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0012644Increased caudate lactate level3AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0041052Agenesis of putamen3AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0007374Atrophy/Degeneration involving the caudate nucleus3AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0007374Atrophy/Degeneration involving the caudate nucleus3CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0041052Agenesis of putamen3CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0012644Increased caudate lactate level3CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0007374Atrophy/Degeneration involving the caudate nucleus3KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0041052Agenesis of putamen3KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0012644Increased caudate lactate level3KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0012644Increased caudate lactate level3PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0007374Atrophy/Degeneration involving the caudate nucleus3PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0041052Agenesis of putamen3PRNP CL E G H5621157941ORPHA01919449176640
HP:0002134HP:0002340Caudate atrophy4AUH CL E G H54967046ORPHA0249890600529
HP:0002134HP:0002340Caudate atrophy4CSPP1 CL E G H79848397715ORPHA0107426193611654
HP:0002134HP:0002340Caudate atrophy4KIAA0586 CL E G H9786397715ORPHA0125319960610178
HP:0002134HP:0002340Caudate atrophy4PRNP CL E G H5621157941ORPHA01919449176640


Genes (111) :ACVR1 ADAR AIFM1 AP1S2 ATP13A2 ATP6 ATR ATXN2 ATXN3 AUH BSCL2 C19ORF12 CA2 CASR CNTNAP1 COASY COQ8A COX15 CPT2 CSPP1 CYP2U1 DNAJC19 ECHS1 ERCC3 ERCC6 ERCC8 ETHE1 FA2H FAM111A FBXO7 FOXP2 FOXRED1 FTL GCH1 GFM1 GJA1 GLI3 GNA11 GNAS HTRA1 HTT IFIH1 ISG15 JPH3 KCNQ2 KIAA0586 LIPT1 MAPT MICU1 MMUT MTFMT NADK2 NANS NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF5 NDUFAF6 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NR4A2 NUP62 PANK2 PDE10A PDE8B PDGFB PDGFRB PDHA1 PET100 POLR3A PRKN PRNP PSMB8 RANBP2 RFT1 RNASEH2A RNASEH2B RNASEH2C SAMHD1 SCO2 SDHA SLC19A3 SLC20A2 SLC30A10 SLC46A1 SNCA SNCAIP SUCLA2 SURF1 TACO1 TBCE TBCK TK2 TREX1 TUBB3 TYROBP VPS13A VRK1 WDR45 XPR1 ZEB2

Diseases (98) :300816 304340 67046 397715 602081 447896 157941 607483 612073 609560 135100 225154 238329 644 210600 98756 289560 259730 601198 616286 608836 320411 615030 66634 610651 133540 216400 51188 93325 127000 606159 98808 609060 164200 672 615361 79443 79444 103580 612462 616779 248111 615846 616126 439218 601104 401768 251000 431361 610442 494526 616921 616922 609161 213600 615483 615007 312170 603218 256040 244310 610181 612952 604377 309854 229050 616900 225750 300570 221770 607596 616413 235730 51 314632 276244 276241 276238 397725 139485 255241 602473 171629 171695 168600 216866 607236 234200 494541 600116 282166 88619 496756 329284 363400 617435 98934 200150
 

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