Details of Disease

General Information of Disease (ID: DISR6T5K)

• Disease Name: Qualitative or quantitative defects of perlecan
• Disease Hierarchy:
  DISD715V: Hereditary neurological disease
  DISXXXEE: Qualitative or quantitative protein defects in neuromuscular diseases
  DISR6T5K: Qualitative or quantitative defects of perlecan
• Disease Identifiers:
  MONDO ID: MONDO_0016151
  UMLS CUI: C5680831
  MedGen ID: 1842752
  Orphanet ID: 207101