Details of Disease

General Information of Disease (ID: DISQCI1P)

• Disease Name: Qualitative or quantitative defects of protein O-mannosyltransferase 2
• Synonyms: qualitative or quantitative defects of protein O-mannosyltransferase type 2
• Disease Hierarchy:
  DIS9PC7U: Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
  DISQCI1P: Qualitative or quantitative defects of protein O-mannosyltransferase 2
• Disease Identifiers:
  MONDO ID: MONDO_0016185
  UMLS CUI: C5680852
  MedGen ID: 1842845
  Orphanet ID: 209033