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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:split hand-foot malformation 2
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Accession:DOID:0090027 term browser browse the term
Definition:A split-hand/foot malformation that has_material_basis_in variation in the chromosome region Xq26. (DO)
Synonyms:exact_synonym: SHFD2;   SHFM2;   SHSF2;   split hand foot anomaly, X-linked;   split hand-foot malformation X-linked;   split-hand-foot deformity 2;   split-hand-split-foot anomaly, X-linked
 primary_id: MESH:C564056
 alt_id: OMIM:313350


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18448
      bone development disease 2304
        split hand-foot malformation 65
          split hand-foot malformation 2 0
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      Skin and Connective Tissue Diseases 7437
        connective tissue disease 5762
          bone disease 4273
            bone development disease 2304
              split hand-foot malformation 65
                split hand-foot malformation 2 0
paths to the root