Details of Disease

General Information of Disease (ID: DIS1NYL8)

• Disease Name: Qualitative or quantitative defects of telethonin
• Disease Hierarchy:
  DISD715V: Hereditary neurological disease
  DISXXXEE: Qualitative or quantitative protein defects in neuromuscular diseases
  DIS1NYL8: Qualitative or quantitative defects of telethonin
• Disease Identifiers:
  MONDO ID: MONDO_0016192
  UMLS CUI: C5680842
  MedGen ID: 1842233
  Orphanet ID: 209056