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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
For additional species annotation, visit the Alliance of Genome Resources.


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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
ClinVar Annotator: match by term: Polydactyly, postaxial, type a7
ClinVar
OMIM
PMID:25741868 PMID:28488682 PMID:31549751 NCBI chr 5:140,662,553...140,702,403
Ensembl chr 5:140,661,827...140,702,378
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14453
    physical disorder 3096
      polydactyly 118
        Postaxial Polydactyly 12
          Postaxial Polydactyly, Type A7 1
Path 2
Term Annotations click to browse term
  disease 14453
    Developmental Disease 10777
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9291
        Congenital Abnormalities 5600
          Musculoskeletal Abnormalities 2255
            Congenital Limb Deformities 452
              polydactyly 118
                Postaxial Polydactyly 12
                  Postaxial Polydactyly, Type A7 1
paths to the root