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Metadata
ID	DOID:0080946
Name	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. https://pubmed.ncbi.nlm.nih.gov/27799409/
Xrefs	MIM:618863
Synonyms	ACBD5 deficiency [EXACT]
Parent Relationships	is_a peroxisomal disease is_a autosomal recessive disease