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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: OMIM:614524


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fibrochondrogenesis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Fibrochondrogenesis 2 OMIM
ClinVar		 PMID:9536098 PMID:10677296 PMID:15558753 PMID:15922184 PMID:17576681 More... NCBI chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21086
    disease of anatomical entity 18146
      endocrine system disease 6704
        Dwarfism 874
          fibrochondrogenesis 2
            fibrochondrogenesis 2 1
Path 2
Term Annotations click to browse term
  disease 21086
    disease of anatomical entity 18146
      musculoskeletal system disease 8193
        connective tissue disease 5724
          bone disease 4226
            bone development disease 2299
              Dwarfism 874
                fibrochondrogenesis 2
                  fibrochondrogenesis 2 1
paths to the root