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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.

show annotations for term's descendants           Sort by:
 
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 ClinVar Annotator: match by term: Arthrogryposis, perthes disease, and upward gaze palsy ClinVar
OMIM		 PMID:25741868 PMID:26633546 PMID:28492532 NCBI chr 6:109,121,524...109,162,433
Ensembl chr 6:109,124,330...109,162,267 		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 1:140,762,758...140,824,441
Ensembl chr 1:140,762,758...140,824,441 		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 ClinVar Annotator: match by term: Coxa plana
ClinVar Annotator: match by term: Legg-Perthes disease		 OMIM
ClinVar		 PMID:15930420 PMID:17394019 PMID:25741868 PMID:28492532 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997 		JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Coxa plana ClinVar PMID:25741868 NCBI chr 7:28,956,363...29,023,232
Ensembl chr 7:28,956,512...29,022,868 		JBrowse link
osteochondritis dissecans term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISO
ISS		 ClinVar Annotator: match by term: Osteochondritis dissecans
OMIM:165800		 ClinVar
MouseDO		 PMID:14216462 PMID:20137779 PMID:24762113 PMID:25741789 PMID:25741868 PMID:27710243 PMID:27870580 PMID:28331218 PMID:28492532 NCBI chr 1:140,762,758...140,824,441
Ensembl chr 1:140,762,758...140,824,441 		JBrowse link
Scheuermann's disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clec3b C-type lectin domain family 3, member B ISS OMIM:181440 MouseDO NCBI chr 8:132,241,016...132,248,066
Ensembl chr 8:132,241,134...132,246,694 		JBrowse link
G Nfix nuclear factor I X ISS OMIM:181440 MouseDO NCBI chr19:25,818,640...25,914,777
Ensembl chr19:25,821,780...25,914,696 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      musculoskeletal system disease 5637
        bone disease 2997
          osteochondrosis 6
            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 + 2
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      musculoskeletal system disease 5637
        connective tissue disease 3651
          bone disease 2997
            ischemic bone disease 27
              osteochondrosis 6
                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 + 2
paths to the root