Details of Disease

General Information of Disease (ID: DISAI4D0)

• Disease Name: Encephalopathy due to sulfite oxidase deficiency
• Definition: Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.
• Disease Hierarchy:
  DISUP794: Inborn disorder of methionine cycle and sulfur amino acid metabolism
  DISMFQKM: Developmental anomaly of metabolic origin
  DISF6ADC: Lens disorder
  DISAI4D0: Encephalopathy due to sulfite oxidase deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0019358
  UMLS CUI: C4275019
  MedGen ID: 894927
  Orphanet ID: 833
  SNOMED CT ID: 715980003