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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;   ANFH1;   ANFH2;   AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1;   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: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2
 primary_id: MESH:D005271;   RDO:0005592
 alt_id: OMIM:608805;   OMIM:617383
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr 5:62,406,928...62,483,690
Ensembl chr 5:62,438,017...62,485,537
JBrowse link
G CAT catalase susceptibility ISO DNA:SNPs:multiple: RGD PMID:18353692 RGD:9479160 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO OMIM NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,220...78,380,924
JBrowse link
G F2 coagulation factor II, thrombin ISO associated with kidney transplantation;20210G>A(human) RGD PMID:16968732 RGD:6902907 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,451...15,819,138
JBrowse link
G F5 coagulation factor V ISO associated with kidney transplantation;1691G>A(human) RGD PMID:16968732 RGD:6902907 NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,232...81,485,055
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO RGD PMID:26261616 RGD:11087286 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,181...190,674,850
JBrowse link
G LRP5 LDL receptor related protein 5 treatment ISO RGD PMID:24510055 RGD:12793062 NCBI chr 2:4,533,721...4,653,997
Ensembl chr 2:4,533,593...4,653,945
JBrowse link
G MIA MIA SH3 domain containing ISO mRNA:increased expression:head of femur RGD PMID:20579363 RGD:10046018 NCBI chr 6:48,986,232...49,010,042 JBrowse link
G PLAT plasminogen activator, tissue type ISO DNA:insertion:intron:IVS8 (human) RGD PMID:24025446 RGD:11541046 NCBI chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4326745 NCBI chr 3:113,661,712...113,668,558 JBrowse link
G TFPI tissue factor pathway inhibitor susceptibility ISO DNA:haplotype: :
protein:increased expression:femur head:
RGD PMID:18695356 PMID:23063054 RGD:11060260 RGD:11062059 NCBI chr15:92,345,083...92,409,962
Ensembl chr15:92,345,075...92,409,905
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO OMIM NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,582
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 OMIM NCBI chr 7:98,275,973...98,322,072
Ensembl chr 7:98,275,976...98,322,469
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 chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,220...78,380,924
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 chr 5:82,264,640...82,460,819
Ensembl chr 5:82,361,871...82,460,814
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13598
    Pathological Conditions, Signs and Symptoms 8904
      Pathologic Processes 6064
        Necrosis 85
          osteonecrosis 22
            Femur Head Necrosis 14
              Legg-Calve-Perthes disease + 3
Path 2
Term Annotations click to browse term
  disease 13598
    disease of anatomical entity 13257
      musculoskeletal system disease 5797
        connective tissue disease 3874
          bone disease 2621
            ischemic bone disease 23
              osteonecrosis 22
                Femur Head Necrosis 14
                  Legg-Calve-Perthes disease + 3
paths to the root