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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;   PLOD3-RELATED DISORDER
 primary_id: MESH:C567320
 alt_id: OMIM:612394;   RDO:0015427
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 chr12:19,676,384...19,686,945
Ensembl chr12:19,676,386...19,686,960
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      musculoskeletal system disease 6466
        connective tissue disease 4447
          Bone Fragility with Contractures, Arterial Rupture, and Deafness 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        peripheral nervous system disease 2565
          neuropathy 2360
            neuromuscular disease 1879
              muscular disease 1283
                Contracture 94
                  Bone Fragility with Contractures, Arterial Rupture, and Deafness 1
paths to the root