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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:Peroxisomal Fatty Acyl-CoA Reductase 1 Disorder
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Accession:DOID:9001854 term browser browse the term
Definition:An autosomal recessive disorder characterized by onset in infancy of severely delayed psychomotor development, growth retardation with microcephaly, and seizures. (OMIM)
Synonyms:exact_synonym: PFCRD
 primary_id: OMIM:616154
For additional species annotation, visit the Alliance of Genome Resources.


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Peroxisomal Fatty Acyl-CoA Reductase 1 Disorder term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Far1 fatty acyl CoA reductase 1 ISO ClinVar Annotator: match by term: Peroxisomal fatty acyl-coa reductase 1 disorder ClinVar
OMIM
PMID:25439727, PMID:25741868, PMID:28492532 NCBI chr 1:178,351,674...178,412,838
Ensembl chr 1:178,351,680...178,431,395
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        lipid metabolism disorder 899
          Peroxisomal Fatty Acyl-CoA Reductase 1 Disorder 1
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
              Peroxisomal Fatty Acyl-CoA Reductase 1 Disorder 1
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.