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ONTOLOGY REPORT - ANNOTATIONS


Term:Bone Fragility with Contractures, Arterial Rupture, and Deafness
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Accession:DOID:9004209 term browser browse the term
Synonyms:exact_synonym: LH3 Deficiency;   Lysyl Hydroxylase 3 Deficiency
 primary_id: MESH:C567320;   RDO:0015427
 alt_id: OMIM:612394
For additional species annotation, visit the Alliance of Genome Resources.


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Bone Fragility with Contractures, Arterial Rupture, and Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 JBrowse link 12 22,716,421 22,726,982 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      musculoskeletal system disease 4302
        connective tissue disease 2790
          Bone Fragility with Contractures, Arterial Rupture, and Deafness 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        peripheral nervous system disease 2138
          neuropathy 1960
            neuromuscular disease 1530
              muscular disease 968
                Contracture 58
                  Bone Fragility with Contractures, Arterial Rupture, and Deafness 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.