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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 Agxt2 alanine-glyoxylate aminotransferase 2 ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:28492532 NCBI chr 2:59,336,252...59,377,664
Ensembl chr 2:59,336,283...59,377,926
JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency OMIM
ClinVar
PMID:9536098 PMID:10655068 PMID:12438241 PMID:12512044 PMID:15249642 More... NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
JBrowse link
G Brix1 biogenesis of ribosomes BRX1 ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:28492532 NCBI chr 2:59,450,608...59,461,486
Ensembl chr 2:59,450,614...59,461,495
JBrowse link
G C1qtnf3 C1q and TNF related 3 ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:28492532 NCBI chr 2:59,917,099...59,939,519
Ensembl chr 2:59,917,188...59,939,433
JBrowse link
G Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:28492532 NCBI chr 2:59,419,505...59,446,743
Ensembl chr 2:59,419,510...59,446,752
JBrowse link
G Prlr prolactin receptor ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:28492532 NCBI chr 2:59,134,147...59,324,719
Ensembl chr 2:59,134,588...59,324,718
JBrowse link
G Rad1 RAD1 checkpoint DNA exonuclease ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:28492532 NCBI chr 2:59,461,597...59,469,707
Ensembl chr 2:59,461,607...59,469,689
JBrowse link
G Rai14 retinoic acid induced 14 ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:28492532 NCBI chr 2:59,546,284...59,682,687
Ensembl chr 2:59,546,284...59,681,971
JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:22987308 PMID:25741868 PMID:28492532 NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317
JBrowse link
G Ttc23l tetratricopeptide repeat domain 23-like ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:28492532 NCBI chr 2:59,476,666...59,538,313
Ensembl chr 2:59,476,669...59,538,282
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        alpha-methylacyl-CoA racemase deficiency 10
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          inherited metabolic disorder 4644
            lipid metabolism disorder 1146
              alpha-methylacyl-CoA racemase deficiency 10
paths to the root