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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:rhizomelic chondrodysplasia punctate type 4
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Accession:DOID:0081243 term browser browse the term
Definition:A rhizomelic chondrodysplasia punctate that has_material_basis_in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency. (DO)
Synonyms:exact_synonym: PFCRD;   Peroxisomal Fatty Acyl-CoA Reductase 1 Disorder
 broad_synonym: FAR1-RELATED NEURODEVELOPMENTAL DISORDER
 primary_id: OMIM:616154
 alt_id: DOID:9001854
 xref: ORDO:438178
For additional species annotation, visit the Alliance of Genome Resources.



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rhizomelic chondrodysplasia punctate type 4 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 OMIM
ClinVar
PMID:25439727 PMID:25741868 PMID:28492532 NCBI chr 1:167,644,622...167,705,868
Ensembl chr 1:167,644,677...167,705,730
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    Nutritional and Metabolic Diseases 6817
      disease of metabolism 6817
        lipid metabolism disorder 1178
          rhizomelic chondrodysplasia punctate type 4 1
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      musculoskeletal system disease 7308
        connective tissue disease 5160
          bone disease 3834
            bone development disease 1906
              osteochondrodysplasia 631
                chondrodysplasia punctata 9
                  rhizomelic chondrodysplasia punctata 5
                    rhizomelic chondrodysplasia punctate type 4 1
paths to the root