Details of Disease

General Information of Disease (ID: DIS0WY0N)

• Disease Name: Peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain
• Synonyms: peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain
• Definition: Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene.
• Disease Hierarchy:
  DIS1L24B: Eye degenerative disorder
  DISPGGVL: Syndromic dyslipidemia
  DISF3YE7: Rhizomelic chondrodysplasia punctata
  :
  DIS0WY0N: Peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain