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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      bone development disease 1263
        osteochondrodysplasia 430
          hypochondrogenesis 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      musculoskeletal system disease 5539
        connective tissue disease 4007
          bone disease 3471
            bone development disease 1263
              osteochondrodysplasia 430
                hypochondrogenesis 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.