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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:osteochondrosis
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Accession:DOID:8125 term browser browse the term
Definition:An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone. (DO)
Synonyms:exact_synonym: Koehler disease;   Koehler's Disease;   Koehlers Disease;   Navicular Osteochondrosis;   apophysitis;   epiphyseal necrosis;   epiphysitis;   navicular osteochondroses;   osteochondritis juvenilis;   osteochondroses
 primary_id: MESH:D055034
 xref: ICD10CM:M92;   ICD10CM:M93.9;   ICD9CM:732.6;   NCI:C34879
For additional species annotation, visit the Alliance of Genome Resources.


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ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEK9 NIMA related kinase 9 ISO OMIM NCBI chr 7:98,275,973...98,322,072
Ensembl chr 7:98,275,976...98,322,469
JBrowse link
Familial Osteochondritis Dissecans term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan ISO OMIM NCBI chr 7:54,449,830...54,520,606
Ensembl chr 7:54,449,588...54,520,153
JBrowse link
Legg-Calve-Perthes disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain ISO OMIM NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,220...78,380,924
JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Coxa plana ClinVar PMID:19617216 PMID:23566849 PMID:25505245 PMID:25741868 PMID:25788519 PMID:28492532 NCBI chr 5:82,264,640...82,460,819
Ensembl chr 5:82,361,871...82,460,814
JBrowse link
osteochondritis dissecans term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan ISO ClinVar Annotator: match by term: Osteochondritis dissecans ClinVar PMID:14216462 PMID:20137779 PMID:24762113 PMID:25741789 PMID:25741868 PMID:27710243 PMID:27870580 PMID:28331218 PMID:28492532 NCBI chr 7:54,449,830...54,520,606
Ensembl chr 7:54,449,588...54,520,153
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13608
    disease of anatomical entity 13264
      musculoskeletal system disease 5814
        bone disease 2627
          osteochondrosis 4
            Blount's disease 0
            Kohler's disease 0
            Legg-Calve-Perthes disease + 3
            Osgood-Schlatter's disease 0
            Osteoarthropathy of Fingers Familial 0
            Osteochondritis + 1
            Spinal Osteochondrosis + 0
Path 2
Term Annotations click to browse term
  disease 13608
    disease of anatomical entity 13264
      musculoskeletal system disease 5814
        connective tissue disease 3880
          bone disease 2627
            ischemic bone disease 23
              osteochondrosis 4
                Blount's disease 0
                Kohler's disease 0
                Legg-Calve-Perthes disease + 3
                Osgood-Schlatter's disease 0
                Osteoarthropathy of Fingers Familial 0
                Osteochondritis + 1
                Spinal Osteochondrosis + 0
paths to the root