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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:An ischemic bone disease that results_in necrosis located_in bone. (DO)
Synonyms:exact_synonym: aseptic necrosis;   aseptic necrosis of bone;   avascular necrosis of bone;   bone aseptic necrosis;   bone avascular necrosis;   bone necroses;   bone necrosis;   osteonecroses
 narrow_synonym: Kienbock Disease;   Kienbock's Disease;   Kienboeck Disease;   Kienboeck's disease;   Kienboecks disease
 xref: EFO:0004259;   ICD10CM:M87;   ICD10CM:M87.9;   ICD9CM:732.3;   ICD9CM:733.41;   ICD9CM:733.42;   ICD9CM:733.43;   ICD9CM:733.44;   MESH:D010020;   MIM:PS608805;   MONDO:0005380;   NCI:C34404;   NCI:C34841;   NCI:C34880;   NCI:C35226;   NCI:C35517
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 8:78,986,252...79,022,638
Ensembl chr 8:78,986,242...79,022,631 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19070762 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856 		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 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		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 1:50,872,927...50,915,406
Ensembl chr 1:50,872,926...50,917,320 		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 chr18:24,038,596...24,049,061
Ensembl chr18:24,038,597...24,048,964 		JBrowse link
G Serpinc1 serpin family C member 1 ISO associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human) RGD PMID:16677567 PMID:16547717 RGD:30309951, RGD:30309948 NCBI chr13:75,790,558...75,804,826
Ensembl chr13:75,790,546...75,817,643 		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 4:160,042,900...160,177,757
Ensembl chr 4:160,047,982...160,177,757 		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 ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy OMIM
ClinVar		 PMID:25741868 PMID:26633546 PMID:28492532 NCBI chr 6:110,675,107...110,715,586
Ensembl chr 6:110,675,107...110,715,586 		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 chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460 		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 IEP mRNA:increased expression:head of femur RGD PMID:20579363 RGD:10046018 NCBI chr 4:156,570,163...156,619,870
Ensembl chr 4:156,569,860...156,619,868 		JBrowse link
G Abcb1a ATP binding cassette subfamily B member 1A susceptibility ISO associated with Alcohol-Related Disorders;DNA:SNP:rs13233308 (human) RGD PMID:28422712 RGD:401901196 NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:26,312,409...26,397,135 		JBrowse link
G Cat catalase susceptibility ISO DNA:SNPs:multiple: RGD PMID:18353692 RGD:9479160 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:110,297,342...110,329,526 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO
IEP 		mRNA:increased expression:head of femur
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary | ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary, 1 		OMIM
CTD
ClinVar
RGD		 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... RGD:10046018 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:130,977,561...131,006,627 		JBrowse link
G F2 coagulation factor II, thrombin ISO associated with kidney transplantation;20210G>A(human) RGD PMID:16968732 RGD:6902907 NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:98,051,960...98,065,246 		JBrowse link
G F5 coagulation factor V ISO associated with kidney transplantation;1691G>A(human) RGD PMID:16968732 RGD:6902907 NCBI chr13:79,046,657...79,116,247
Ensembl chr13:79,046,448...79,116,247 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO associated with sickle cell anemia; RGD PMID:23590899 RGD:10450838 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO associated with sickle cell anemia; RGD PMID:23590899 RGD:10450838 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,083...12,873,019 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP RGD PMID:26261616 RGD:11087286 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:98,359,910...98,405,323 		JBrowse link
G Il23r interleukin 23 receptor susceptibility ISO associated with Alcohol-Related Disorders;DNA:SNP:rs6693831 (human) RGD PMID:28422712 RGD:401901196 NCBI chr 4:97,910,230...98,003,759
Ensembl chr 4:97,909,972...98,004,110 		JBrowse link
G Lrp5 LDL receptor related protein 5 treatment IEP RGD PMID:24510055 RGD:12793062 NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:210,243,502...210,346,822 		JBrowse link
G Mia MIA SH3 domain containing IEP mRNA:increased expression:head of femur RGD PMID:20579363 RGD:10046018 NCBI chr 1:91,601,326...91,603,019
Ensembl chr 1:91,601,327...91,603,019 		JBrowse link
G Mir23a microRNA 23a ameliorates IMP RGD PMID:29039554 RGD:155882564 NCBI chr19:40,859,769...40,859,843 JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO associated with Alcohol-Related Disorders;DNA:SNPs,haplotype::rs743506,rs3918184 (human) RGD PMID:28422712 RGD:401901196 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664 		JBrowse link
G Plat plasminogen activator, tissue type ISO DNA:insertion:intron:IVS8 (human) RGD PMID:24025446 RGD:11541046 NCBI chr16:75,943,061...76,022,037
Ensembl chr16:75,943,064...75,967,696 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4326745 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:32,659,346...32,665,173 		JBrowse link
G Runx2 RUNX family transcription factor 2 susceptibility ISO DNA:SNP: :rs3763190 RGD PMID:28476574 RGD:598092497 NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:23,664,952...23,990,027 		JBrowse link
G Tfpi tissue factor pathway inhibitor susceptibility ISO
IEP 		DNA:haplotype: :
protein:increased expression:femur head: 		RGD PMID:18695356 PMID:23063054 RGD:11060260, RGD:11062059 NCBI chr 3:89,939,862...89,989,253
Ensembl chr 3:89,939,868...89,980,742 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary, 2 		OMIM
CTD
ClinVar		 PMID:4056805 PMID:8179305 PMID:20037586 PMID:20037587 PMID:20037588 More... NCBI chr12:47,599,161...47,638,143
Ensembl chr12:47,599,035...47,638,143 		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 ClinVar Annotator: match by term: Coxa plana | ClinVar Annotator: match by term: Legg-Calve-Perthes disease | ClinVar Annotator: match by term: Osteochondritis deformans
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:130,977,561...131,006,627 		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 7:24,687,923...24,754,821
Ensembl chr 7:24,687,969...24,754,821 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    Pathological Conditions, Signs and Symptoms 13670
      Pathologic Processes 8404
        Necrosis 96
          osteonecrosis 29
            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 + 21
Path 2
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18459
      musculoskeletal system disease 8480
        connective tissue disease 5931
          bone disease 4372
            ischemic bone disease 32
              osteonecrosis 29
                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 + 21
paths to the root