retinal dystrophy with leukodystrophy

Term ID

DOID:0080946

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. https://pubmed.ncbi.nlm.nih.gov/27799409/

References

• OMIM:618863

Ontology

Human Disease   ( DOID:0080946 )