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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: Juvenile Osteochondrosis;   Koehler disease;   Koehler's Disease;   Koehlers Disease;   Navicular Osteochondrosis;   apophysitis;   epiphyseal necrosis;   epiphysitis;   navicular osteochondroses;   osteochondritis juvenilis;   osteochondroses
 primary_id: MESH:D055034
 xref: EFO:0008575;   EFO:0008577;   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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:26633546 PMID:28492532 NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coxa plana | ClinVar Annotator: match by term: Legg-Calve-Perthes disease | ClinVar Annotator: match by term: Osteochondritis deformans		 OMIM
CTD
ClinVar		 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Legg-Calve-Perthes disease ClinVar PMID:19617216 PMID:20301728 PMID:23566849 PMID:25505245 PMID:25741868 More... NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933 		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:16080123 PMID:20137779 PMID:24762113 PMID:25741868 PMID:27870580 More... NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627 		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 8:122,810,120...122,815,837
Ensembl chr 8:122,810,149...122,815,835 		JBrowse link
G Nfix nuclear factor I X ISS OMIM:181440 MouseDO NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265 		JBrowse link
SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR 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: Short stature and advanced bone age | ClinVar Annotator: match by term: Short stature and advanced bone age, with early-onset osteoarthritis | ClinVar Annotator: match by term: Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | ClinVar Annotator: match by term: Short stature-advanced bone age-early-onset osteoarthritis syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:14216462 PMID:16080123 PMID:19110214 PMID:20137779 PMID:24762113 More... NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        bone disease 4302
          osteochondrosis 6
            Blount's disease 0
            Kohler's disease 0
            Legg-Calve-Perthes disease + 3
            Osgood-Schlatter's disease 0
            Osteochondritis + 1
            Spinal Osteochondrosis + 2
            Thiemann Disease 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        connective tissue disease 5786
          bone disease 4302
            ischemic bone disease 31
              osteochondrosis 6
                Blount's disease 0
                Kohler's disease 0
                Legg-Calve-Perthes disease + 3
                Osgood-Schlatter's disease 0
                Osteochondritis + 1
                Spinal Osteochondrosis + 2
                Thiemann Disease 0
paths to the root