Version: 8.0.0
Date: Tue Jan 28 2025
retinal dystrophy with leukodystrophy
DOID:0080946
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

retinal dystrophy with leukodystrophy

Definition
A peroxisomal disease that is characterized by a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism and that has_material_basis_in homozygous mutation in the ACBD5 gene on chromosome 10p12.
Synonyms
  • ACBD5 deficiency
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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