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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.


show annotations for term's descendants           Sort by:
 
Postaxial Polydactyly, Type A10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIAA0825 KIAA0825 IAGP ClinVar Annotator: match by term: POLYDACTYLY, POSTAXIAL, TYPE A10 OMIM
ClinVar
PMID:30982135 NCBI chr 5:94,150,851...94,618,604
Ensembl chr 5:94,150,851...94,618,604
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20257
    physical disorder 3503
      polydactyly 138
        Postaxial Polydactyly 13
          Postaxial Polydactyly, Type A10 1
Path 2
Term Annotations click to browse term
  disease 20257
    Developmental Disease 13770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11280
        Congenital Abnormalities 6749
          Musculoskeletal Abnormalities 2608
            Congenital Limb Deformities 519
              polydactyly 138
                Postaxial Polydactyly 13
                  Postaxial Polydactyly, Type A10 1
paths to the root