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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:osteonecrosis
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Accession:DOID:10159 term browser browse the term
Definition:Death of a bone or part of a bone, either atraumatic or posttraumatic.
Synonyms:exact_synonym: Bone Aseptic Necrosis;   Bone Avascular Necrosis;   Bone Necroses;   Bone Necrosis;   Kienbock Disease;   Kienbock's Disease;   Kienboeck Disease;   Kienboeck's Disease;   Kienboecks disease;   aseptic necrosis;   aseptic necrosis of bone;   avascular necrosis of bone;   osteonecroses
 primary_id: MESH:D010020
 alt_id: RDO:0001643
 xref: ICD10CM:M87;   ICD10CM:M87.9;   ICD9CM:732.3;   ICD9CM:733.41;   ICD9CM:733.42;   ICD9CM:733.43;   ICD9CM:733.44;   NCI:C34404;   NCI:C34841;   NCI:C34880;   NCI:C35226;   NCI:C35517;   OMIM:PS608805
For additional species annotation, visit the Alliance of Genome Resources.


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osteonecrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa2 annexin A2 ISO RGD PMID:15784727 RGD:1578382 NCBI chrNW_004955450:14,545,586...14,574,161
Ensembl chrNW_004955450:14,512,381...14,574,696
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19070762 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
JBrowse link
G Mthfr methylenetetrahydrofolate reductase no_association ISO associated with Anemia, Sickle Cell;DNA:SNP: :677C>T (human) RGD PMID:9840906 RGD:10449417 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
JBrowse link
G Plg plasminogen ISO associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human) RGD PMID:16547717 PMID:16677567 RGD:30309948 RGD:30309951 NCBI chrNW_004955439:20,317,814...20,366,724
Ensembl chrNW_004955439:20,317,552...20,366,475
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human) RGD PMID:16547717 PMID:16677567 RGD:30309948 RGD:30309951 NCBI chrNW_004955459:3,097,229...3,105,566
Ensembl chrNW_004955459:3,094,120...3,104,135
JBrowse link
G Serpinc1 serpin family C member 1 ISO associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human) RGD PMID:16547717 PMID:16677567 RGD:30309948 RGD:30309951 NCBI chrNW_004955406:14,024,183...14,036,206
Ensembl chrNW_004955406:14,024,313...14,035,948
JBrowse link
G Vwf von Willebrand factor ISO associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human) RGD PMID:16547717 RGD:30309948 NCBI chrNW_004955413:3,672,470...3,825,588
Ensembl chrNW_004955413:3,672,470...3,819,571
JBrowse link
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek9 NIMA related kinase 9 ISO OMIM NCBI chrNW_004955523:443,832...483,397
Ensembl chrNW_004955523:446,748...482,246
JBrowse link
Bisphosphonate-Associated Osteonecrosis of the Jaw term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain treatment ISO associated with Multiple Myeloma RGD PMID:21396799 RGD:11041182 NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073
JBrowse link
Femur Head Necrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase susceptibility ISO DNA:SNPs:multiple: RGD PMID:18353692 RGD:9479160 NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO OMIM NCBI chrNW_004955500:6,860,771...6,885,466
Ensembl chrNW_004955500:6,860,771...6,885,473
JBrowse link
G F2 coagulation factor II, thrombin ISO associated with kidney transplantation;20210G>A(human) RGD PMID:16968732 RGD:6902907 NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517
JBrowse link
G F5 coagulation factor V ISO associated with kidney transplantation;1691G>A(human) RGD PMID:16968732 RGD:6902907 NCBI chrNW_004955462:7,695,004...7,757,832
Ensembl chrNW_004955462:7,694,939...7,757,463
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO RGD PMID:26261616 RGD:11087286 NCBI chrNW_004955466:8,000,311...8,022,497
Ensembl chrNW_004955466:8,000,044...8,022,497
JBrowse link
G LOC102021956 alpha-2-macroglobulin ISO mRNA:increased expression:head of femur RGD PMID:20579363 RGD:10046018 NCBI chrNW_004955413:6,019,457...6,062,366
Ensembl chrNW_004955413:6,019,082...6,062,529
JBrowse link
G Lrp5 LDL receptor related protein 5 treatment ISO RGD PMID:24510055 RGD:12793062 NCBI chrNW_004955422:17,394,371...17,475,244
Ensembl chrNW_004955422:17,394,371...17,505,763
JBrowse link
G Mia MIA SH3 domain containing ISO mRNA:increased expression:head of femur RGD PMID:20579363 RGD:10046018 NCBI chrNW_004955578:570,142...572,959 JBrowse link
G Plat plasminogen activator, tissue type ISO DNA:insertion:intron:IVS8 (human) RGD PMID:24025446 RGD:11541046 NCBI chrNW_004955536:730,962...754,333
Ensembl chrNW_004955536:730,981...756,394
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4326745 NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386
JBrowse link
G Tfpi tissue factor pathway inhibitor susceptibility ISO protein:increased expression:femur head:
DNA:haplotype: :
RGD PMID:18695356 PMID:23063054 RGD:11060260 RGD:11062059 NCBI chrNW_004955403:10,925,155...11,004,229
Ensembl chrNW_004955403:10,924,893...11,004,284
JBrowse link
G Trpv4 transient receptor potential cation channel subfamily V member 4 ISO OMIM NCBI chrNW_004955455:8,744,865...8,781,644
Ensembl chrNW_004955455:8,744,176...8,783,741
JBrowse link
Legg-Calve-Perthes disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO OMIM NCBI chrNW_004955500:6,860,771...6,885,466
Ensembl chrNW_004955500:6,860,771...6,885,473
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 chrNW_004955405:37,107,902...37,136,993
Ensembl chrNW_004955405:37,107,542...37,136,993
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12691
    Pathological Conditions, Signs and Symptoms 8355
      Pathologic Processes 5690
        Necrosis 84
          osteonecrosis 22
            ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY 1
            Bilateral Kienbock's Disease 0
            Bisphosphonate-Associated Osteonecrosis of the Jaw 1
            Dieterich's Disease 0
            Femur Head Necrosis + 14
Path 2
Term Annotations click to browse term
  disease 12691
    disease of anatomical entity 12366
      musculoskeletal system disease 5516
        connective tissue disease 3660
          bone disease 2510
            ischemic bone disease 23
              osteonecrosis 22
                ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY 1
                Bilateral Kienbock's Disease 0
                Bisphosphonate-Associated Osteonecrosis of the Jaw 1
                Dieterich's Disease 0
                Femur Head Necrosis + 14
paths to the root