Term Name:	retinal dystrophy with leukodystrophy
Synonyms:	ACBD5 deficiency
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.
Ontology:	Human Disease [DOID:0080946]   ( DOID:0080946 )