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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 IAGP ClinVar Annotator: match by term: Arthrogryposis, perthes disease, and upward gaze palsy ClinVar
OMIM
PMID:25741868 PMID:26633546 PMID:28492532 NCBI chr14:75,079,353...75,127,637
Ensembl chr14:75,079,353...75,127,344
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 IAGP associated with Multiple Myeloma RGD PMID:21396799 RGD:11041182 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,184,101...50,201,632
JBrowse link
Familial Osteochondritis Dissecans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan IAGP OMIM NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353
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 chr12:9,067,708...9,116,229
Ensembl chr12:9,067,664...9,116,229
JBrowse link
G CAT catalase susceptibility IAGP DNA:SNPs:multiple: RGD PMID:18353692 RGD:9479160 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO
IAGP
mRNA:increased expression:head of femur
ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary
ClinVar
OMIM
PMID:7695699 PMID:8218237 PMID:9016532 PMID:15930420 PMID:17078022 PMID:17394019 PMID:19344236 PMID:21671384 PMID:25741868 PMID:25809783 PMID:28492532 PMID:29750297, PMID:20579363 RGD:10046018 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G F2 coagulation factor II, thrombin IAGP associated with kidney transplantation;20210G>A(human) RGD PMID:16968732 RGD:6902907 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
JBrowse link
G F5 coagulation factor V IAGP associated with kidney transplantation;1691G>A(human) RGD PMID:16968732 RGD:6902907 NCBI chr 1:169,511,951...169,586,630
Ensembl chr 1:169,511,951...169,586,588
JBrowse link
G GSTM1 glutathione S-transferase mu 1 IAGP associated with sickle cell anemia; RGD PMID:23590899 RGD:10450838 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTT1 glutathione S-transferase theta 1 susceptibility IAGP associated with sickle cell anemia; RGD PMID:23590899 RGD:10450838
G HIF1A hypoxia inducible factor 1 subunit alpha ISO RGD PMID:26261616 RGD:11087286 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
JBrowse link
G LRP5 LDL receptor related protein 5 treatment ISO RGD PMID:24510055 RGD:12793062 NCBI chr11:68,298,866...68,449,275
Ensembl chr11:68,312,591...68,449,275
JBrowse link
G MIA MIA SH3 domain containing ISO mRNA:increased expression:head of femur RGD PMID:20579363 RGD:10046018 NCBI chr19:40,775,160...40,777,490
Ensembl chr19:40,771,648...40,777,490
JBrowse link
G PLAT plasminogen activator, tissue type IAGP DNA:insertion:intron:IVS8 (human) RGD PMID:24025446 RGD:11541046 NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709
JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: marker/mechanism CTD PMID:4326745 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
JBrowse link
G TFPI tissue factor pathway inhibitor susceptibility IAGP
ISO
DNA:haplotype: :
protein:increased expression:femur head:
RGD PMID:18695356, PMID:23063054 RGD:11060260, RGD:11062059 NCBI chr 2:187,464,230...187,554,501
Ensembl chr 2:187,464,230...187,565,760
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary, 2 OMIM
ClinVar
PMID:4056805 PMID:8179305 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20460441 PMID:21288981 PMID:21336783 PMID:21454511 PMID:22702953 PMID:24575025 PMID:24789864 PMID:25256292 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26467025 PMID:28492532 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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 IAGP 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 chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP ClinVar Annotator: match by term: Coxa plana ClinVar PMID:19617216 PMID:23566849 PMID:25505245 PMID:25741868 PMID:25788519 PMID:28492532 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
JBrowse link
osteochondritis dissecans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan IAGP
IEA
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 chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353
JBrowse link
osteonecrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANXA2 annexin A2 IAGP RGD PMID:15784727 RGD:1578382 NCBI chr15:60,347,151...60,398,025
Ensembl chr15:60,347,134...60,402,883
JBrowse link
G MMP2 matrix metallopeptidase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19070762 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association IAGP associated with Anemia, Sickle Cell;DNA:SNP: :677C>T (human) RGD PMID:9840906 RGD:10449417 NCBI chr 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G PLG plasminogen IEP associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human) RGD PMID:16547717, PMID:16677567 RGD:30309948, RGD:30309951 NCBI chr 6:160,702,193...160,754,097
Ensembl chr 6:160,702,238...160,754,097
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa IEP associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human) RGD PMID:16547717, PMID:16677567 RGD:30309948, RGD:30309951 NCBI chr 2:127,418,143...127,429,246
Ensembl chr 2:127,418,427...127,429,242
JBrowse link
G SERPINC1 serpin family C member 1 IEP associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human) RGD PMID:16677567, PMID:16547717 RGD:30309951, RGD:30309948 NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327
JBrowse link
G VWF von Willebrand factor IEP associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human) RGD PMID:16547717 RGD:30309948 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
JBrowse link
Scheuermann's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLEC3B C-type lectin domain family 3 member B ISS OMIM:181440 MouseDO NCBI chr 3:45,026,207...45,036,071
Ensembl chr 3:45,001,548...45,036,071
JBrowse link
G NFIX nuclear factor I X ISS OMIM:181440 MouseDO NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20158
    disease of anatomical entity 18756
      musculoskeletal system disease 6880
        bone disease 3135
          ischemic bone disease 27
            dysbaric osteonecrosis 0
            osteochondritis dissecans + 1
            osteochondrosis + 6
            osteonecrosis + 24
Path 2
Term Annotations click to browse term
  disease 20158
    disease of anatomical entity 18756
      musculoskeletal system disease 6880
        connective tissue disease 4615
          bone disease 3135
            ischemic bone disease 27
              dysbaric osteonecrosis 0
              osteochondritis dissecans + 1
              osteochondrosis + 6
              osteonecrosis + 24
paths to the root