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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:Crossed Polydactyly, Type I
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Accession:DOID:9007878 term browser browse the term
Synonyms:primary_id: MESH:C566783;   RDO:0015035
For additional species annotation, visit the Alliance of Genome Resources.


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Crossed Polydactyly, Type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli3 GLI family zinc finger 3 ISO DNA:nonsense mutation:exon:p.R643X (1927 C>T) (human) RGD PMID:16874813 RGD:12738209 NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    physical disorder 3070
      polydactyly 120
        Crossed Polydactyly, Type I 1
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        Congenital Abnormalities 5555
          Musculoskeletal Abnormalities 2219
            Congenital Limb Deformities 455
              polydactyly 120
                Crossed Polydactyly, Type I 1
paths to the root