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DO Term : retinal dystrophy with leukodystrophy [DOID:0080946] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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:
  • 618863,
  • OMIM:618863,
  • ACBD5 deficiency
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Disease

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