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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.


show annotations for term's descendants           Sort by:
 
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 chr 1:111,588,721...111,635,064
Ensembl chr 1:111,588,306...111,635,064
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19070762 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
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 chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
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 chr 1:7,062,399...7,109,521
Ensembl chr 1:7,061,191...7,110,555
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 chr15:25,043,543...25,054,310
Ensembl chr15:25,032,622...25,056,595
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 chr 9:116,181,988...116,193,100
Ensembl chr 9:116,181,980...116,193,201
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 chr 5:64,516,627...64,655,938
Ensembl chr 5:64,519,186...65,002,098
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 chr 7:98,275,973...98,322,072
Ensembl chr 7:98,275,976...98,322,469
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 chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
Femur Head Necrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2M alpha-2-macroglobulin ISO mRNA:increased expression:head of femur RGD PMID:20579363 RGD:10046018 NCBI chr 5:62,406,928...62,483,690
Ensembl chr 5:62,438,017...62,485,537
JBrowse link
G CAT catalase susceptibility ISO DNA:SNPs:multiple: RGD PMID:18353692 RGD:9479160 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO OMIM NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,220...78,380,924
JBrowse link
G F2 coagulation factor II, thrombin ISO associated with kidney transplantation;20210G>A(human) RGD PMID:16968732 RGD:6902907 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,451...15,819,138
JBrowse link
G F5 coagulation factor V ISO associated with kidney transplantation;1691G>A(human) RGD PMID:16968732 RGD:6902907 NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,232...81,485,055
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO RGD PMID:26261616 RGD:11087286 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,181...190,674,850
JBrowse link
G LRP5 LDL receptor related protein 5 treatment ISO RGD PMID:24510055 RGD:12793062 NCBI chr 2:4,533,721...4,653,997
Ensembl chr 2:4,533,593...4,653,945
JBrowse link
G MIA MIA SH3 domain containing ISO mRNA:increased expression:head of femur RGD PMID:20579363 RGD:10046018 NCBI chr 6:48,986,232...49,010,042 JBrowse link
G PLAT plasminogen activator, tissue type ISO DNA:insertion:intron:IVS8 (human) RGD PMID:24025446 RGD:11541046 NCBI chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4326745 NCBI chr 3:113,661,712...113,668,558 JBrowse link
G TFPI tissue factor pathway inhibitor susceptibility ISO DNA:haplotype: :
protein:increased expression:femur head:
RGD PMID:18695356 PMID:23063054 RGD:11060260 RGD:11062059 NCBI chr15:92,345,083...92,409,962
Ensembl chr15:92,345,075...92,409,905
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO OMIM NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,582
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 chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,220...78,380,924
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 chr 5:82,264,640...82,460,819
Ensembl chr 5:82,361,871...82,460,814
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13552
    Pathological Conditions, Signs and Symptoms 8897
      Pathologic Processes 6067
        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 13552
    disease of anatomical entity 13211
      musculoskeletal system disease 5793
        connective tissue disease 3866
          bone disease 2616
            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