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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: OMIM:608980

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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 term: Bifid nose with or without anorectal and renal anomalies OMIM
ClinVar		 PMID:9536098 PMID:11332973 PMID:11822703 PMID:17576681 PMID:19732862 More... NCBI chrNW_004955434:17,754,002...17,901,416
Ensembl chrNW_004955434:17,753,925...17,901,407 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      Urogenital Diseases 4394
        urinary system disease 2228
          kidney disease 2019
            Bifid Nose with or without Anorectal and Renal Anomalies 1
paths to the root