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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

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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:25741916 PMID:26633546 PMID:28492532 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 Abcb1 ATP binding cassette subfamily B member 1 susceptibility ISO associated with Alcohol-Related Disorders;DNA:SNP:rs13233308 (human) RGD PMID:28422712 RGD:401901196 NCBI chrNW_004955432:4,911,774...5,085,349 JBrowse link
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 ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary | ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary, 1 OMIM
ClinVar		 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... 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 Il23r interleukin 23 receptor susceptibility ISO associated with Alcohol-Related Disorders;DNA:SNP:rs6693831 (human) RGD PMID:28422712 RGD:401901196 NCBI chrNW_004955423:23,841,342...23,885,191
Ensembl chrNW_004955423:23,842,475...23,884,904 		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
Ensembl chrNW_004955578:570,142...572,938 		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 chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814 		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 ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary, 2 OMIM
ClinVar		 PMID:4056805 PMID:8179305 PMID:20037586 PMID:20037587 PMID:20037588 More... 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 ClinVar Annotator: match by term: Coxa plana | ClinVar Annotator: match by term: Legg-Calve-Perthes disease | ClinVar Annotator: match by term: Osteochondritis deformans OMIM
ClinVar		 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... 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: Legg-Calve-Perthes disease ClinVar PMID:19617216 PMID:20301728 PMID:23566849 PMID:25505245 PMID:25741868 More... NCBI chrNW_004955405:37,107,902...37,136,993
Ensembl chrNW_004955405:37,107,542...37,136,993 		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:16080123 PMID:20137779 PMID:24762113 PMID:25741868 PMID:27870580 More... NCBI chrNW_004955416:16,125,536...16,186,046 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 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
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 ISO OMIM:181440 MouseDO NCBI chrNW_004955420:26,665,472...26,669,474 JBrowse link
G Nfix nuclear factor I X ISO OMIM:181440 MouseDO NCBI chrNW_004955415:32,055,926...32,121,611
Ensembl chrNW_004955415:32,055,375...32,117,833 		JBrowse link
SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR 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: Short stature and advanced bone age | ClinVar Annotator: match by term: Short stature and advanced bone age, with early-onset osteoarthritis | ClinVar Annotator: match by term: Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | ClinVar Annotator: match by term: Short stature-advanced bone age-early-onset osteoarthritis syndrome OMIM
ClinVar		 PMID:14216462 PMID:16080123 PMID:19110214 PMID:20137779 PMID:24762113 More... NCBI chrNW_004955416:16,125,536...16,186,046 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      musculoskeletal system disease 7251
        bone disease 3596
          ischemic bone disease 28
            dysbaric osteonecrosis 0
            osteochondritis dissecans + 1
            osteochondrosis + 6
            osteonecrosis + 25
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      musculoskeletal system disease 7251
        connective tissue disease 4916
          bone disease 3596
            ischemic bone disease 28
              dysbaric osteonecrosis 0
              osteochondritis dissecans + 1
              osteochondrosis + 6
              osteonecrosis + 25
paths to the root