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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: MIM:618498


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 homolog ISO ClinVar Annotator: match by term: Polydactyly, postaxial, type a10 OMIM
ClinVar		 PMID:25741868 PMID:30982135 PMID:32147526 NCBI chr 2:6,874,474...7,437,032
Ensembl chr 2:6,874,539...7,434,521 		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 A10 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 A10 1
paths to the root