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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 RGD1560883 similar to KIAA0825 protein ISO ClinVar Annotator: match by term: POLYDACTYLY, POSTAXIAL, TYPE A10 OMIM
ClinVar
PMID:30982135 NCBI chr 2:4,195,871...4,755,065
Ensembl chr 2:4,195,917...4,754,318
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    physical disorder 3070
      polydactyly 120
        Postaxial Polydactyly 12
          Postaxial Polydactyly, Type A10 1
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        Congenital Abnormalities 5555
          Musculoskeletal Abnormalities 2219
            Congenital Limb Deformities 455
              polydactyly 120
                Postaxial Polydactyly 12
                  Postaxial Polydactyly, Type A10 1
paths to the root