Details of Disease

General Information of Disease (ID: DIS5U4RX)

• Disease Name: Qualitative or quantitative defects of nebulin
• Disease Hierarchy:
  DISXXXEE: Qualitative or quantitative protein defects in neuromuscular diseases
  DIS5U4RX: Qualitative or quantitative defects of nebulin
• Disease Identifiers:
  MONDO ID: MONDO_0016194
  UMLS CUI: C5680844
  MedGen ID: 1842429
  Orphanet ID: 209182