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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:Bifid Nose with or without Anorectal And Renal Anomalies
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Accession:DOID:9000566 term browser browse the term
Synonyms:exact_synonym: BNAR
 primary_id: MESH:C567672;   RDO:0015677
 alt_id: OMIM:608980
For additional species annotation, visit the Alliance of Genome Resources.


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Bifid Nose with or without Anorectal And Renal Anomalies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frem1 Fras1 related extracellular matrix 1 ISO ClinVar Annotator: match by OMIM:608980
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bifid nose with or without anorectal and renal anomalies
OMIM
ClinVar
CTD
PMID:11822703 PMID:19732862 PMID:23221805 PMID:25741868 NCBI chr 5:101,018,009...101,166,794
Ensembl chr 5:101,020,448...101,166,651
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      gastrointestinal system disease 4651
        intestinal disease 1536
          rectal disease 863
            Bifid Nose with or without Anorectal And Renal Anomalies 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      gastrointestinal system disease 4651
        Gastrointestinal Diseases 2583
          intestinal disease 1536
            rectal disease 863
              Bifid Nose with or without Anorectal And Renal Anomalies 1
paths to the root