FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term alpha-methylacyl-CoA racemase deficiency ID (Ontology) DOID:0060602 (Human Disease)
Definition A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1.
Also Known As "AMACR deficiency"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 alpha-methylacyl-CoA racemase deficiency       1
 for disease ribbon | alpha-methylacyl-CoA racemase deficiency       1
 model of | alpha-methylacyl-CoA racemase deficiency       1
Spanning Tree (Parents/Children)
Only view relationship: 
  inherited metabolic disorder
   |__peroxisomal disease
       |__alpha-methylacyl-CoA racemase deficiency  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a peroxisomal disease
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "AMACR deficiency" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
MESH:C565768
MIM:614307