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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 A7
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Accession:DOID:9009200 term browser browse the term
Definition:Postaxial polydactyly restricted to the feet, with well-developed nails present on the extra digits and attachment of both the fifth and sixth toes to a broad 2-headed fifth metatarsal. (OMIM)
Synonyms:exact_synonym: PAPA7
 primary_id: OMIM:617642


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Postaxial Polydactyly, Type A7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iqce IQ motif containing E ISO ClinVar Annotator: match by term: Polydactyly, postaxial, type a7 OMIM
ClinVar		 PMID:25741868 PMID:28488682 PMID:31549751 NCBI chr12:13,943,290...13,982,708
Ensembl chr12:13,943,487...13,982,693 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      polydactyly 367
        Postaxial Polydactyly 16
          Postaxial Polydactyly, Type A7 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        Congenital Abnormalities 7583
          Musculoskeletal Abnormalities 3302
            Congenital Limb Deformities 1022
              polydactyly 367
                Postaxial Polydactyly 16
                  Postaxial Polydactyly, Type A7 1
paths to the root