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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
For additional species annotation, visit the Alliance of Genome Resources.


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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      endocrine system disease 4988
        Dwarfism 494
          fibrochondrogenesis 2
            fibrochondrogenesis 1 2
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      musculoskeletal system disease 5715
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1330
              Dwarfism 494
                fibrochondrogenesis 2
                  fibrochondrogenesis 1 2
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.