FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term retinal dystrophy with leukodystrophy ID (Ontology) DOID:0080946 (Human Disease)
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.
Also Known As "ACBD5 deficiency"
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 Genes
 retinal dystrophy with leukodystrophy       1
 for disease ribbon | retinal dystrophy with leukodystrophy       1
 model of | retinal dystrophy with leukodystrophy       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
inherited metabolic disorder     |
 |__peroxisomal disease__________|
                                 retinal dystrophy with leukodystrophy  1 rec.
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Is a autosomal recessive disease
peroxisomal disease
Part of
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Synonyms
  • "ACBD5 deficiency" EXACT
Secondary IDs
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MIM:618863