Details of Disease

General Information of Disease (ID: DIS22H66)

• Disease Name: Qualitative or quantitative defects of dystrophin
• Synonyms: dystrophinopathy
• Disease Hierarchy:
  DISXXXEE: Qualitative or quantitative protein defects in neuromuscular diseases
  DIS22H66: Qualitative or quantitative defects of dystrophin
• Disease Identifiers:
  MONDO ID: MONDO_0016147
  UMLS CUI: C5679787
  MedGen ID: 1826053
  Orphanet ID: 207085