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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 1
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Accession:DOID:0080672 term browser browse the term
Definition:A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21. (DO)
Synonyms:exact_synonym: FBCG1
 primary_id: OMIM:228520

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fibrochondrogenesis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain susceptibility ISO ClinVar Annotator: match by term: Fibrochondrogenesis 1 OMIM
ClinVar		 PMID:9536098 PMID:10486316 PMID:17236192 PMID:17576681 PMID:17999364 More... NCBI chrNW_004624857:5,817,472...6,176,421
Ensembl chrNW_004624857:5,817,475...6,029,107 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Fibrochondrogenesis 1 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624754:23,614,486...23,640,489
Ensembl chrNW_004624754:23,614,570...23,639,591 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14089
    disease of anatomical entity 13754
      endocrine system disease 5514
        Dwarfism 787
          fibrochondrogenesis 2
            fibrochondrogenesis 1 2
Path 2
Term Annotations click to browse term
  disease 14089
    disease of anatomical entity 13754
      musculoskeletal system disease 7235
        connective tissue disease 4910
          bone disease 3621
            bone development disease 2143
              Dwarfism 787
                fibrochondrogenesis 2
                  fibrochondrogenesis 1 2
paths to the root