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encephalopathy due to sulfite oxidase deficiency

Disease Summary
Associated Targets (6)
Tbio

5

Tclin

1


Mondo Description Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.
Mondo Term and Equivalent IDs
MONDO:0019358:  encephalopathy due to sulfite oxidase deficiency
Orphanet:833: 
SCTID:715980003: 
UMLS:C4275019: