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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;   OMIM:PS228520;   ORDO:2021
For additional species annotation, visit the Alliance of Genome Resources.


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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 CTD NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018
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 OMIM
ClinVar
PMID:17999364, PMID:21035103, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Fibrochondrogenesis 1 ClinVar PMID:24033266, PMID:25741868 NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018
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 OMIM:614524
ClinVar Annotator: match by term: Fibrochondrogenesis 2
ClinVar
OMIM
PMID:15922184, PMID:22246659, PMID:22938506, PMID:23967202, PMID:24033266, PMID:25240749, PMID:25741868, PMID:26467025, PMID:26691295 NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      endocrine system disease 4987
        Dwarfism 493
          fibrochondrogenesis 2
            fibrochondrogenesis 1 2
            fibrochondrogenesis 2 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              Dwarfism 493
                fibrochondrogenesis 2
                  fibrochondrogenesis 1 2
                  fibrochondrogenesis 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.