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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
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Accession:DOID:0060465 term browser browse the term
Definition:An osteochondrodysplasia that is characterized by shortened long bones in the arms and legs that are unusually wide at the ends, flattened vertebrae with a characteristic pinched or pear shape, and a very narrow chest in infants with short, wide ribs and a round and prominent abdomen. (DO)
Synonyms:primary_id: MESH:C562524
 xref: GARD:2321;   MIM:PS228520;   ORDO:2021


show annotations for term's descendants           Sort by:
fibrochondrogenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrochondrogenesis		 CTD
ClinVar		 PMID:21035103 PMID:23922384 PMID:28492532 NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985 		JBrowse link
fibrochondrogenesis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Fibrochondrogenesis 1 ClinVar
OMIM		 PMID:9536098 PMID:10486316 PMID:17236192 PMID:17576681 PMID:17999364 More... NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853 		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 chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985 		JBrowse link
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 chr20:4,786,932...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 19102
    disease of anatomical entity 18443
      endocrine system disease 7029
        Dwarfism 876
          fibrochondrogenesis 2
            fibrochondrogenesis 1 2
            fibrochondrogenesis 2 1
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      musculoskeletal system disease 8492
        connective tissue disease 5959
          bone disease 4413
            bone development disease 2374
              Dwarfism 876
                fibrochondrogenesis 2
                  fibrochondrogenesis 1 2
                  fibrochondrogenesis 2 1
paths to the root