Details of Disease

General Information of Disease (ID: DISOXMGQ)

• Disease Name: Inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
• Synonyms: disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation; disorder of glycosphingolipid and GPI-anchored proteins glycosylation
• Disease Hierarchy:
  DISLZR99: Disorder of GPI anchor biosynthesis
  DISEOA7S: Lipid metabolism disorder
  DIS400QP: Congenital disorder of glycosylation
  DISOXMGQ: Inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
• Disease Identifiers:
  MONDO ID: MONDO_0017748
  UMLS CUI: C5679954
  MedGen ID: 1842274
  Orphanet ID: 309515