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Femur Head Necrosis - Ontology Report - Rat Genome Database

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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: MIM:608805;   MIM:617383
 xref: EFO:1001930;   NCI:C35447

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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 IEP mRNA:increased expression:head of femur RGD PMID:20579363 RGD:10046018 NCBI chr 4:156,570,163...156,619,870
Ensembl chr 4:154,897,877...154,947,786 		JBrowse link
G Abcb1a ATP binding cassette subfamily B member 1A susceptibility ISO associated with Alcohol-Related Disorders;DNA:SNP:rs13233308 (human) RGD PMID:28422712 RGD:401901196 NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Cat catalase susceptibility ISO DNA:SNPs:multiple: RGD PMID:18353692 RGD:9479160 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO
IEP 		mRNA:increased expression:head of femur
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary | ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary, 1 		OMIM
CTD
ClinVar
RGD		 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... RGD:10046018 NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G F2 coagulation factor II, thrombin ISO associated with kidney transplantation;20210G>A(human) RGD PMID:16968732 RGD:6902907 NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G F5 coagulation factor V ISO associated with kidney transplantation;1691G>A(human) RGD PMID:16968732 RGD:6902907 NCBI chr13:79,046,657...79,116,247
Ensembl chr13:76,513,255...76,582,317 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO associated with sickle cell anemia; RGD PMID:23590899 RGD:10450838 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO associated with sickle cell anemia; RGD PMID:23590899 RGD:10450838 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP RGD PMID:26261616 RGD:11087286 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261 		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 4:97,910,230...98,003,759
Ensembl chr 4:96,580,714...96,674,021 		JBrowse link
G Lrp5 LDL receptor related protein 5 treatment IEP RGD PMID:24510055 RGD:12793062 NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Mia MIA SH3 domain containing IEP mRNA:increased expression:head of femur RGD PMID:20579363 RGD:10046018 NCBI chr 1:82,473,677...82,476,378
Ensembl chr 1:82,473,678...82,475,370 		JBrowse link
G Mir23a microRNA 23a ameliorates IMP RGD PMID:29039554 RGD:155882564 NCBI chr19:40,859,769...40,859,843
Ensembl chr19:23,954,997...23,955,071 		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 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Plat plasminogen activator, tissue type ISO DNA:insertion:intron:IVS8 (human) RGD PMID:24025446 RGD:11541046 NCBI chr16:75,943,061...76,022,037
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4326745 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Runx2 RUNX family transcription factor 2 susceptibility ISO DNA:SNP: :rs3763190 RGD PMID:28476574 RGD:598092497 NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:16,167,482...16,492,167 		JBrowse link
G Tfpi tissue factor pathway inhibitor susceptibility ISO
IEP 		DNA:haplotype: :
protein:increased expression:femur head: 		RGD PMID:18695356 PMID:23063054 RGD:11060260, RGD:11062059 NCBI chr 3:89,939,862...89,989,253
Ensembl chr 3:69,533,156...69,576,880 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary | ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary, 2 		OMIM
CTD
ClinVar		 PMID:4056805 PMID:8179305 PMID:20037586 PMID:20037587 PMID:20037588 More... NCBI chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517 		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:26633546 PMID:28492532 NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		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 chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    Pathological Conditions, Signs and Symptoms 13623
      Pathologic Processes 8333
        Necrosis 96
          osteonecrosis 29
            Femur Head Necrosis 21
              Legg-Calve-Perthes disease + 3
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      musculoskeletal system disease 8470
        connective tissue disease 5925
          bone disease 4372
            ischemic bone disease 32
              osteonecrosis 29
                Femur Head Necrosis 21
                  Legg-Calve-Perthes disease + 3
paths to the root