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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 6:121,636,165...121,679,238
Ensembl chr 6:121,635,376...121,679,227
JBrowse link
G Cat catalase susceptibility ISO DNA:SNPs:multiple: RGD PMID:18353692 RGD:9479160 NCBI chr 2:103,453,904...103,485,153
Ensembl chr 2:103,453,849...103,485,160
JBrowse link
G Col2a1 collagen, type II, alpha 1 ISO ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary
mRNA:increased expression:head of femur
OMIM
ClinVar
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 chr15:97,975,602...98,004,724
Ensembl chr15:97,975,602...98,004,695
JBrowse link
G F2 coagulation factor II ISO associated with kidney transplantation;20210G>A(human) RGD PMID:16968732 RGD:6902907 NCBI chr 2:91,612,397...91,636,457
Ensembl chr 2:91,625,320...91,636,414
JBrowse link
G F5 coagulation factor V ISO associated with kidney transplantation;1691G>A(human) RGD PMID:16968732 RGD:6902907 NCBI chr 1:164,151,835...164,220,277
Ensembl chr 1:164,151,838...164,220,277
JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO associated with sickle cell anemia; RGD PMID:23590899 RGD:10450838 NCBI chr 3:108,012,250...108,017,973
Ensembl chr 3:108,012,255...108,017,973
JBrowse link
G Gstt1 glutathione S-transferase, theta 1 susceptibility ISO associated with sickle cell anemia; RGD PMID:23590899 RGD:10450838 NCBI chr10:75,783,813...75,798,584
Ensembl chr10:75,783,813...75,798,584
JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO RGD PMID:26261616 RGD:11087286 NCBI chr12:73,901,324...73,947,554
Ensembl chr12:73,901,375...73,947,530
JBrowse link
G Lrp5 low density lipoprotein receptor-related protein 5 treatment ISO RGD PMID:24510055 RGD:12793062 NCBI chr19:3,584,825...3,686,585
Ensembl chr19:3,584,828...3,686,564
JBrowse link
G Mia melanoma inhibitory activity ISO mRNA:increased expression:head of femur RGD PMID:20579363 RGD:10046018 NCBI chr 7:27,179,741...27,181,149
Ensembl chr 7:27,179,742...27,181,157
JBrowse link
G Plat plasminogen activator, tissue ISO DNA:insertion:intron:IVS8 (human) RGD PMID:24025446 RGD:11541046 NCBI chr 8:22,757,722...22,782,848
Ensembl chr 8:22,757,727...22,782,844
JBrowse link
G Pomc pro-opiomelanocortin-alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:4326745 NCBI chr12:3,954,945...3,960,643
Ensembl chr12:3,954,951...3,960,642
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 chr 2:84,432,855...84,476,775
Ensembl chr 2:84,432,855...84,476,775
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 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 chr 5:114,622,152...114,658,435
Ensembl chr 5:114,622,152...114,658,421
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 (never in mitosis gene a)-related expressed kinase 9 ISO ClinVar Annotator: match by term: Arthrogryposis, perthes disease, and upward gaze palsy ClinVar
OMIM
PMID:25741868 PMID:26633546 PMID:28492532 NCBI chr12:85,299,514...85,339,362
Ensembl chr12:85,299,514...85,339,362
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 ISO 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 chr15:97,975,602...98,004,724
Ensembl chr15:97,975,602...98,004,695
JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits ISO ClinVar Annotator: match by term: Coxa plana ClinVar PMID:19617216 PMID:23566849 PMID:25505245 PMID:25741868 PMID:25788519 PMID:28492532 NCBI chr10:88,379,134...88,447,324
Ensembl chr10:88,379,132...88,447,329
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14439
    Pathological Conditions, Signs and Symptoms 9435
      Pathologic Processes 6436
        Necrosis 89
          osteonecrosis 24
            Femur Head Necrosis 16
              Legg-Calve-Perthes disease + 3
Path 2
Term Annotations click to browse term
  disease 14439
    disease of anatomical entity 14033
      musculoskeletal system disease 6059
        connective tissue disease 4063
          bone disease 2737
            ischemic bone disease 27
              osteonecrosis 24
                Femur Head Necrosis 16
                  Legg-Calve-Perthes disease + 3
paths to the root