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
Accession: DOID:0060602
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
alt_id: MIM:614307
xref: EFO:1001980
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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
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Amacr
alpha-methylacyl-CoA racemase
ISO ISS
OMIM:614307 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency
OMIM MouseDO CTD ClinVar
PMID:9536098 PMID:10655068 PMID:12438241 PMID:12512044 PMID:15249642 PMID:16199547 PMID:17576681 PMID:18032455 PMID:20558530 PMID:20818383 PMID:20821052 PMID:21576695 PMID:21686617 PMID:23286897 PMID:25133958 PMID:25741868 PMID:28492532 PMID:30369941 PMID:34440436 More...
NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
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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
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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
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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 2:59,419,507...59,446,746
Ensembl chr 2:59,419,510...59,446,752
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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
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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
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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
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Slc45a2
solute carrier family 45, member 2
ISO
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317
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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
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