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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:Femur Head Necrosis
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Accession:DOID:9003049 term browser browse the term
Definition:Aseptic or avascular necrosis of the femoral head. The major types are idiopathic (primary), as a complication of fractures or dislocations, and LEGG-CALVE-PERTHES DISEASE.
Synonyms:exact_synonym: ANFH;   Aseptic Necrosis of Femur Head;   Avascular Necrosis Of Femoral Head, Primary;   Avascular Necrosis of Femur Head;   FEMORAL HEAD, ASEPTIC NECROSIS OF;   Femoral Head, Avascular Necrosis Of;   Femur Head Necroses;   Ischemic Necrosis Of Femoral Head;   osteonecrosis of femoral head
 narrow_synonym: ANFH1;   ANFH2;   AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1;   AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2;   idiopathic osteonecrosis of the femoral head
 primary_id: MESH:D005271
 alt_id: OMIM:608805;   OMIM:617383
 xref: EFO:1001930;   NCI:C35447


show annotations for term's descendants           Sort by:
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 chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238 		JBrowse link
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 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 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 IL23R interleukin 23 receptor susceptibility ISO associated with Alcohol-Related Disorders;DNA:SNP:rs6693831 (human) RGD PMID:28422712 RGD:401901196 NCBI chr 1:66,408,839...66,502,535
Ensembl chr 1:68,293,514...68,386,815 		JBrowse link
G LOC100979269 alpha-2-macroglobulin ISO mRNA:increased expression:head of femur RGD PMID:20579363 RGD:10046018 NCBI chr12:9,154,457...9,202,833
Ensembl chr12:9,385,359...9,433,979 		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 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 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233 		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 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 chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182 		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:25741916 PMID:26633546 PMID:28492532 NCBI chr14:55,633,667...55,678,670
Ensembl chr14:74,478,387...74,522,320 		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 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: Legg-Calve-Perthes disease ClinVar PMID:19617216 PMID:20301728 PMID:23566849 PMID:25505245 PMID:25741868 More... NCBI chr12:99,328,026...99,418,151
Ensembl chr12:102,729,615...102,816,560 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Pathological Conditions, Signs and Symptoms 12035
      Pathologic Processes 7433
        Necrosis 89
          osteonecrosis 26
            Femur Head Necrosis 18
              Legg-Calve-Perthes disease + 3
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      musculoskeletal system disease 7804
        connective tissue disease 5332
          bone disease 3850
            ischemic bone disease 29
              osteonecrosis 26
                Femur Head Necrosis 18
                  Legg-Calve-Perthes disease + 3
paths to the root