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Details
Link-It Detail - Human Phenotype - Abnormality of the basal ganglia
Debug Stats
  • ### Total Build Time: 33 ms 36.428 KB
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  • Reload Stats
Human Phenotype (1)
Abnormality of the basal ganglia HP:0002134
Definition (1)
The basal ganglia are a group of nuclei (striatum, pallidum substantia nigra, and the subthalamic nucleus) at the base of the forebrain that are connected to the cerebral cortex, the thalamus, and other areas. The basal ganglia subserve motor functions that are distinct from those of the pyramidal (corticospinal) tract, for which reason neurologic abnormalities caused by lesions to the basal ganglia are often referred to as extrapyramidal.
Parents (2)
img Abnormality of the cerebrum HP:0002060
img Abnormality of the cerebral subcortex HP:0010993
Children (17)
img Structural abnormalities in the basal ganglia HP:0006952
img Abnormality of the globus pallidus HP:0002453
img Neuronal loss in basal ganglia HP:0200147
img Lesions in basal ganglia, brainstem, cerebellum, thalamus, spinal cord HP:0002405
img Symmetric lesions of the basal ganglia HP:0007039
img Abnormality of the striatum HP:0010994
img Basal ganglia gliosis HP:0006999
img Bilateral basal ganglia lesions HP:0007146
img Basal ganglia calcification HP:0002135
img Basal ganglia cysts HP:0006799
img Hemiballismus HP:0100248
img MRI imaging shows cavitation of the basal ganglia HP:0007246
img Imaging shows signal abnormalities in basal ganglia HP:0007257
img Large basal ganglia HP:0007048
img Hyperintense lesions in the basal ganglia on MRI HP:0007183
img Cavitation of the basal ganglia HP:0007007
img Basal ganglia necrosis HP:0012128
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the cerebrum HP:0002060
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the cerebrum HP:0002060
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of the cerebrum HP:0002060
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the cerebral subcortex HP:0010993
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of the cerebral subcortex HP:0010993
img All HP:0000001img Phenotypic abnormality HP:00001189img Abnormality of the cerebral subcortex HP:0010993
Genes (55)

Species:
human : 55
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDEL17Q11.2100852404
img HP RolledUp, OMIM ID: 613675
HumanNDUFS7374291NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
img HP RolledUp, OMIM ID: 256000
HumanNDUFAF6137682NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
img HP RolledUp, OMIM ID: 256000
HumanCYP2U1113612cytochrome P450, family 2, subfamily U, polypeptide 1
img HP RolledUp, OMIM ID: 615030
HumanSLC46A1113235solute carrier family 46 (folate transporter), member 1
img HP RolledUp, OMIM ID: 229050
HumanFOXP293986forkhead box P2
img HP IEA, OMIM ID: 602081
HumanNDUFAF291942NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
img HP RolledUp, OMIM ID: 256000
HumanGFM185476G elongation factor, mitochondrial 1
img HP RolledUp, OMIM ID: 609060
HumanPANK280025pantothenate kinase 2
img HP RolledUp, OMIM ID: 607236
img HP RolledUp, OMIM ID: 234200
HumanRNASEH2B79621ribonuclease H2, subunit B
img HP RolledUp, OMIM ID: 610181
HumanFAM111A63901family with sequence similarity 111, member A
img HP RolledUp, OMIM ID: 127000
HumanNDUFA1255967NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
img HP RolledUp, OMIM ID: 256000
HumanFOXRED155572FAD-dependent oxidoreductase domain containing 1
img HP RolledUp, OMIM ID: 256000
HumanTREM254209triggering receptor expressed on myeloid cells 2
img HP RolledUp, OMIM ID: 221770
HumanHLN253369Huntington-like neurodegenerative disorder 2
HumanSAMHD125939SAM domain and HD domain 1
img HP RolledUp, OMIM ID: 612952
HumanIBGC123706idiopathic basal ganglia calcification 1
img HP RolledUp, OMIM ID: 213600
HumanETHE123474ethylmalonic encephalopathy 1
img HP RolledUp, OMIM ID: 602473
HumanVPS13A23230vacuolar protein sorting 13 homolog A (S. cerevisiae)
HumanTREX111277three prime repair exonuclease 1
img HP RolledUp, OMIM ID: 225750
HumanLRPPRC10128leucine-rich pentatricopeptide repeat containing
HumanAIFM19131apoptosis-inducing factor, mitochondrion-associated, 1
img HP IEA, OMIM ID: 300816
HumanSUCLA28803succinate-CoA ligase, ADP-forming, beta subunit
img HP IEA, OMIM ID: 609560
img HP IEA, OMIM ID: 612073
HumanPDE8B8622phosphodiesterase 8B
img HP RolledUp, OMIM ID: 609161
HumanWSN7489Waisman syndrome
img HP RolledUp, OMIM ID: 311510
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0002134Abnormality of the basal ganglia0self