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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:alpha-methylacyl-CoA racemase deficiency
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Accession:DOID:0060602 term browser browse the term
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. (DO)
Synonyms:exact_synonym: AMACR Deficiency;   AMACRD
 primary_id: MESH:C565768;   RDO:0014318
 alt_id: OMIM:614307
For additional species annotation, visit the Alliance of Genome Resources.


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alpha-methylacyl-CoA racemase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amacr alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency
ClinVar Annotator: match by OMIM:614307
OMIM
ClinVar
PMID:10655068, PMID:12438241, PMID:12512044, PMID:15249642, PMID:18032455, PMID:20558530, PMID:20818383, PMID:20821052, PMID:21576695, PMID:25133958, PMID:25741868, PMID:28492532 NCBI chr 2:60,949,276...60,961,342
Ensembl chr 2:60,949,256...60,961,326
JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar NCBI chr 2:60,966,671...60,999,398
Ensembl chr 2:60,966,789...60,999,398
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        alpha-methylacyl-CoA racemase deficiency 2
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            lipid metabolism disorder 899
              alpha-methylacyl-CoA racemase deficiency 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.