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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:SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS
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Accession:DOID:9001680 term browser browse the term
Synonyms:exact_synonym: Familial Osteochondritis Dissecans;   OD;   SHORT STATURE AND ADVANCED BONE AGE;   SSOAOD
 narrow_synonym: OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS;   SHORT STATURE AND ADVANCED BONE AGE, WITH EARLY-ONSET OSTEOARTHRITIS;   SHORT STATURE-ADVANCED BONE AGE-EARLY-ONSET OSTEOARTHRITIS SYNDROME
 primary_id: MESH:C580095;   OMIM:165800;   RDO:0015889
 alt_id: RDO:0008096

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show annotations for term's descendants           Sort by:
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 OMIM
ClinVar		 PMID:14216462 PMID:16080123 PMID:19110214 PMID:20137779 PMID:24762113 More... NCBI chrNW_004936483:14,811,152...14,846,305
Ensembl chrNW_004936483:14,811,152...14,846,305 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Diseases of the Aged 1181
      osteoarthritis 233
        SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      musculoskeletal system disease 7378
        connective tissue disease 5008
          bone disease 3672
            bone inflammation disease 1238
              arthropathy 1218
                arthritis 810
                  osteoarthritis 233
                    SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS 1
paths to the root