OBO ID: DOID:0080946
Term Name: retinal dystrophy with leukodystrophy Search Ontology:
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
is a type of:
OTHER retinal dystrophy with leukodystrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ACBD5 Retinal dystrophy with leukodystrophy 618863
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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