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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:spondylolysis
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Accession:DOID:2300 term browser browse the term
Definition:A bone structure disease that involves a defect located_in lumbar vertebral column. (DO)
Synonyms:exact_synonym: Spondylolyses
 primary_id: MESH:D013169
 xref: EFO:0005649;   ICD10CM:M43.0;   NCI:C35034
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
spondylolysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO DNA:mutations:cds:c.2286A>T(p.D673V), c.1922A>G(p.H641R),g.18654T>C(human) RGD PMID:26077908 RGD:13208868 NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      musculoskeletal system disease 8492
        bone disease 4413
          bone structure disease 132
            spondylolysis 1
              spondylolisthesis + 0
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      musculoskeletal system disease 8492
        connective tissue disease 5960
          bone disease 4413
            spinal disease 1147
              spondylosis 2
                spondylolysis 1
                  spondylolisthesis + 0
paths to the root