Details of Disease

General Information of Disease (ID: DISXWQDY)

• Disease Name: Qualitative or quantitative defects of plectin
• Disease Hierarchy:
  DISD715V: Hereditary neurological disease
  DISXXXEE: Qualitative or quantitative protein defects in neuromuscular diseases
  DISXWQDY: Qualitative or quantitative defects of plectin
• Disease Identifiers:
  MONDO ID: MONDO_0016198
  UMLS CUI: C5680835
  MedGen ID: 1842345
  Orphanet ID: 209196