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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: MIM:618219
 xref: EFO:0010250;   MONDO:0032603


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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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    physical disorder 5180
      polydactyly 380
        Postaxial Polydactyly 16
          Postaxial Polydactyly, Type A9 1
Path 2
Term Annotations click to browse term
  disease 19100
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        Congenital Abnormalities 7780
          Musculoskeletal Abnormalities 3440
            Congenital Limb Deformities 1063
              polydactyly 380
                Postaxial Polydactyly 16
                  Postaxial Polydactyly, Type A9 1
paths to the root