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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
 alt_id: MIM:608980



show annotations for term's descendants           Sort by:
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bifid nose with or without anorectal and renal anomalies
OMIM
CTD
ClinVar
PMID:9536098 PMID:11332973 PMID:11822703 PMID:17576681 PMID:19732862 More... NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      Urogenital Diseases 5391
        urinary system disease 2832
          kidney disease 2580
            Bifid Nose with or without Anorectal and Renal Anomalies 1
paths to the root