Details of Disease

General Information of Disease (ID: DIS2IRZ8)

Disease Name Basal ganglia disorder
Synonyms
disorder of basal ganglia; disorder of collection of basal ganglia; disease or disorder of collection of basal ganglia; disease of collection of basal ganglia; disease of basal ganglia; collection of basal ganglia disease or disorder; collection of basal ganglia disease; basal ganglia disease
Definition A disease involving the basal ganglia.
Disease Hierarchy
DISWD40R: Disease
DIS6ZC3X: Brain disease
DIS2IRZ8: Basal ganglia disorder
Disease Identifiers
MONDO ID
MONDO_0003996
UMLS CUI
C4520981
MedGen ID
1619147
HPO ID
HP:0002134

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MFF OTEVIXOM Strong Genetic Variation [1]
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References

1 Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy. J Med Genet. 2016 Apr;53(4):270-8. doi: 10.1136/jmedgenet-2015-103500. Epub 2016 Jan 18.