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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 A9
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Accession:DOID:9002200 term browser browse the term
Definition:A disease characterized by one or more posterior or postaxial digits. (OMIM)
Synonyms:exact_synonym: PAPA9
 primary_id: OMIM:618219
 xref: EFO:0010250;   MONDO:0032603
For additional species annotation, visit the Alliance of Genome Resources.



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Postaxial Polydactyly, Type A9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cibar1 CBY1 interacting BAR domain containing 1 ISO ClinVar Annotator: match by term: Polydactyly, postaxial, type A9 OMIM
ClinVar
PMID:25741868 PMID:30395363 NCBI chr 5:25,613,993...25,632,440
Ensembl chr 5:25,614,033...25,632,489
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    physical disorder 4312
      polydactyly 221
        Postaxial Polydactyly 12
          Postaxial Polydactyly, Type A9 1
Path 2
Term Annotations click to browse term
  disease 18215
    Developmental Disease 13068
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11804
        Congenital Abnormalities 6810
          Musculoskeletal Abnormalities 2818
            Congenital Limb Deformities 649
              polydactyly 221
                Postaxial Polydactyly 12
                  Postaxial Polydactyly, Type A9 1
paths to the root