Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0080946 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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