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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 (never in mitosis gene a)-related expressed kinase 9 ISO ClinVar Annotator: match by term: Arthrogryposis, perthes disease, and upward gaze palsy ClinVar
OMIM
PMID:25741868 PMID:26633546 PMID:28492532 NCBI chr12:85,299,514...85,339,362
Ensembl chr12:85,299,514...85,339,362
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 7:79,053,226...79,115,099
Ensembl chr 7:79,053,483...79,115,099
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 ISO ClinVar Annotator: match by term: Coxa plana
ClinVar Annotator: match by term: Legg-Perthes disease
OMIM
ClinVar
PMID:7695699 PMID:8218237 PMID:9016532 PMID:15930420 PMID:17078022 PMID:17394019 PMID:19344236 PMID:25741868 PMID:25809783 PMID:28492532 PMID:29750297 NCBI chr15:97,975,602...98,004,724
Ensembl chr15:97,975,602...98,004,695
JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits ISO ClinVar Annotator: match by term: Coxa plana ClinVar PMID:19617216 PMID:23566849 PMID:25505245 PMID:25741868 PMID:25788519 PMID:28492532 NCBI chr10:88,379,134...88,447,324
Ensembl chr10:88,379,132...88,447,329
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 7:79,053,226...79,115,099
Ensembl chr 7:79,053,483...79,115,099
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 IEA OMIM:181440 MouseDO NCBI chr 9:123,150,946...123,157,432
Ensembl chr 9:123,150,946...123,157,432
JBrowse link
G Nfix nuclear factor I/X IEA OMIM:181440 MouseDO NCBI chr 8:84,704,712...84,801,238
Ensembl chr 8:84,699,876...84,800,344
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14453
    disease of anatomical entity 14044
      musculoskeletal system disease 6081
        bone disease 2744
          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 14453
    disease of anatomical entity 14044
      musculoskeletal system disease 6081
        connective tissue disease 4071
          bone disease 2744
            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