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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:ischemic bone disease
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Accession:DOID:0080008 term browser browse the term
Definition:A bone disease that results_in an interruption of blood supply located_in bone. (DO)
Synonyms:primary_id: RDO:9004302
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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEK9 NIMA related kinase 9 ISO OMIM NCBI chr14:55,633,667...55,678,670
Ensembl chr14:74,478,387...74,522,320
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 chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
Familial Osteochondritis Dissecans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan ISO OMIM NCBI chr15:67,492,494...67,563,265
Ensembl chr15:86,733,853...86,771,420
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 chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO OMIM NCBI chr12:40,726,137...40,757,690 JBrowse link
G F2 coagulation factor II, thrombin ISO associated with kidney transplantation;20210G>A(human) RGD PMID:16968732 RGD:6902907 NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157
JBrowse link
G F5 coagulation factor V ISO associated with kidney transplantation;1691G>A(human) RGD PMID:16968732 RGD:6902907 NCBI chr 1:144,996,757...145,070,046
Ensembl chr 1:148,718,897...148,790,915
JBrowse link
G GSTM1 glutathione S-transferase mu 1 ISO associated with sickle cell anemia; RGD PMID:23590899 RGD:10450838 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO RGD PMID:26261616 RGD:11087286 NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
JBrowse link
G LRP5 LDL receptor related protein 5 treatment ISO RGD PMID:24510055 RGD:12793062 NCBI chr11:63,396,511...63,534,471
Ensembl chr11:66,735,246...66,839,817
JBrowse link
G MIA MIA SH3 domain containing ISO mRNA:increased expression:head of femur RGD PMID:20579363 RGD:10046018 NCBI chr19:37,818,126...37,820,832
Ensembl chr19:46,325,755...46,328,065
JBrowse link
G PLAT plasminogen activator, tissue type ISO DNA:insertion:intron:IVS8 (human) RGD PMID:24025446 RGD:11541046 NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4326745 NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706
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 chr2B:74,744,154...74,834,338
Ensembl chr2B:192,541,881...192,581,384
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO OMIM NCBI chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182
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 chr12:40,726,137...40,757,690 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 chr12:99,328,026...99,418,151
Ensembl chr12:102,729,615...102,816,560
JBrowse link
osteochondritis dissecans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan ISO ClinVar Annotator: match by term: Osteochondritis dissecans ClinVar PMID:14216462 PMID:20137779 PMID:24762113 PMID:25741789 PMID:25741868 PMID:27710243 PMID:27870580 PMID:28331218 PMID:28492532 NCBI chr15:67,492,494...67,563,265
Ensembl chr15:86,733,853...86,771,420
JBrowse link
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 chr15:39,322,303...39,371,565
Ensembl chr15:57,625,425...57,674,250
JBrowse link
G LOC100982214 plasminogen ISO associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human) RGD PMID:16547717 PMID:16677567 RGD:30309948 RGD:30309951 NCBI chr 6:158,662,192...158,713,413
Ensembl chr 6:163,673,464...163,736,777
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19070762 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
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 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
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 chr2B:32,846,899...32,859,060
Ensembl chr2B:128,083,794...128,094,625
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 1:149,421,737...149,435,301
Ensembl chr 1:153,126,031...153,139,369
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 chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13774
    disease of anatomical entity 13429
      musculoskeletal system disease 5834
        bone disease 2633
          ischemic bone disease 23
            dysbaric osteonecrosis 0
            osteochondritis dissecans + 1
            osteochondrosis + 4
            osteonecrosis + 22
Path 2
Term Annotations click to browse term
  disease 13774
    disease of anatomical entity 13429
      musculoskeletal system disease 5834
        connective tissue disease 3914
          bone disease 2633
            ischemic bone disease 23
              dysbaric osteonecrosis 0
              osteochondritis dissecans + 1
              osteochondrosis + 4
              osteonecrosis + 22
paths to the root