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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:hypochondrogenesis
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Accession:DOID:0080044 term browser browse the term
Definition:An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen. (DO)
Synonyms:primary_id: MESH:C563007


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hypochondrogenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Hypochondrogenesis ClinVar PMID:1429602 PMID:2572591 PMID:3195588 NCBI chr12:40,726,137...40,757,690 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      bone development disease 2300
        osteochondrodysplasia 870
          hypochondrogenesis 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      musculoskeletal system disease 7805
        connective tissue disease 5332
          bone disease 3850
            bone development disease 2300
              osteochondrodysplasia 870
                hypochondrogenesis 1
paths to the root