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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:fibrochondrogenesis 2
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Accession:DOID:0080673 term browser browse the term
Definition:A fibrochondrogenesis that has_material_basis_in homozygous or heterozygous mutation in the COL11A2 gene on chromosome 6p21.3. (DO)
Synonyms:exact_synonym: FBCG2
 primary_id: MIM:614524


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      bone development disease 2345
        Dwarfism 867
          fibrochondrogenesis 2
            fibrochondrogenesis 2 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      musculoskeletal system disease 8492
        connective tissue disease 5948
          bone disease 4398
            bone development disease 2345
              Dwarfism 867
                fibrochondrogenesis 2
                  fibrochondrogenesis 2 1
paths to the root