Details of Disease
General Information of Disease (ID: DISRU5ZM)
| Disease Name | Peroxisome biogenesis disorder due to PEX7 defect | ||||
|---|---|---|---|---|---|
| Synonyms | rhizomelic chondrodysplasia punctata type 1 (formerly); adult refsum disease due to PEX7 defect (formerly); PEX7 related peroxisome biogenesis disorder | ||||
| Definition | Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX7 gene. | ||||
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