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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: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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 ISO ClinVar Annotator: match by OMIM:612394
ClinVar Annotator: match by term: Bone fragility with contractures, arterial rupture, and deafness
OMIM
ClinVar
PMID:18834968 PMID:25741868 PMID:28492532 NCBI chr12:22,716,421...22,726,982
Ensembl chr12:22,716,423...22,726,982
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      musculoskeletal system disease 5761
        connective tissue disease 4105
          Bone Fragility with Contractures, Arterial Rupture, and Deafness 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        peripheral nervous system disease 2500
          neuropathy 2320
            neuromuscular disease 1805
              muscular disease 1223
                Contracture 101
                  Bone Fragility with Contractures, Arterial Rupture, and Deafness 1
paths to the root