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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:Postaxial Polydactyly, Type A10
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Accession:DOID:9003540 term browser browse the term
Synonyms:exact_synonym: PAPA10
 primary_id: OMIM:618498
For additional species annotation, visit the Alliance of Genome Resources.


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Postaxial Polydactyly, Type A10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2210408I21Rik RIKEN cDNA 2210408I21 gene ISO ClinVar Annotator: match by term: POLYDACTYLY, POSTAXIAL, TYPE A10 OMIM
ClinVar
PMID:30982135 NCBI chr13:77,135,531...77,613,785
Ensembl chr13:77,135,540...77,613,784
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14453
    physical disorder 3096
      polydactyly 118
        Postaxial Polydactyly 12
          Postaxial Polydactyly, Type A10 1
Path 2
Term Annotations click to browse term
  disease 14453
    Developmental Disease 10779
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9290
        Congenital Abnormalities 5601
          Musculoskeletal Abnormalities 2255
            Congenital Limb Deformities 452
              polydactyly 118
                Postaxial Polydactyly 12
                  Postaxial Polydactyly, Type A10 1
paths to the root