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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:Syndactyly Type 6
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Accession:DOID:9003334 term browser browse the term
Definition:A rare, genetic, non-syndromic, congenital limb malformation disorder characterized by unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second- and third-toe fusion. Some individuals present only with webbing between second and third toes, without involvement of fingers. (ORPHA)
Synonyms:exact_synonym: Mitten hand;   Syndactyly, mitten type;   Unilateral syndactyly of digits 2-5
 xref: ORDO:295012


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      bone development disease 2304
        dysostosis 577
          synostosis 376
            syndactyly 147
              Syndactyly Type 6 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      musculoskeletal system disease 8272
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2304
              dysostosis 577
                synostosis 376
                  syndactyly 147
                    Syndactyly Type 6 0
paths to the root