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Ulnar/Fibular Ray Defect and Brachydactyly - Ontology Report - Rat Genome Database

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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:Ulnar/Fibular Ray Defect and Brachydactyly
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Accession:DOID:9008060 term browser browse the term
Synonyms:primary_id: MESH:C563905
 alt_id: MIM:608571

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Ulnar/Fibular Ray Defect and Brachydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Ulnar/fibular ray defect and brachydactyly ClinVar PMID:28492532 NCBI chr15:38,259,907...38,271,269
Ensembl chr15:38,259,928...38,270,316 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      bone development disease 2387
        dysostosis 639
          brachydactyly 33
            Ulnar/Fibular Ray Defect and Brachydactyly 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      Skin and Connective Tissue Diseases 7774
        connective tissue disease 5918
          bone disease 4368
            bone development disease 2387
              dysostosis 639
                brachydactyly 33
                  Ulnar/Fibular Ray Defect and Brachydactyly 1
paths to the root