Details of Disease

General Information of Disease (ID: DIS0GENS)

• Disease Name: Qualitative or quantitative defects of protein O-mannosyltransferase 1
• Synonyms: qualitative or quantitative defects of protein O-mannosyltransferase type 1
• Disease Hierarchy:
  DIS9PC7U: Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
  DIS0GENS: Qualitative or quantitative defects of protein O-mannosyltransferase 1
• Disease Identifiers:
  MONDO ID: MONDO_0016184
  UMLS CUI: C5680849
  MedGen ID: 1842612
  Orphanet ID: 209030