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progressive demyelinating neuropathy with bilateral striatal necrosis

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities.
Uniprot Description A disease characterized by recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy.
Mondo Term and Equivalent IDs
MONDO:0013382:  progressive demyelinating neuropathy with bilateral striatal necrosis
Orphanet:217396: 
UMLS:C3150973: