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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 IEP mRNA:increased expression:head of femur RGD PMID:20579363 RGD:10046018 NCBI chr 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137
Ensembl chr 4:154,309,426...154,359,137
JBrowse link
G Cat catalase susceptibility ISO DNA:SNPs:multiple: RGD PMID:18353692 RGD:9479160 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO
IEP
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 chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G F2 coagulation factor II ISO associated with kidney transplantation;20210G>A(human) RGD PMID:16968732 RGD:6902907 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F5 coagulation factor V ISO associated with kidney transplantation;1691G>A(human) RGD PMID:16968732 RGD:6902907 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO associated with sickle cell anemia; RGD PMID:23590899 RGD:10450838 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO associated with sickle cell anemia; RGD PMID:23590899 RGD:10450838 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP RGD PMID:26261616 RGD:11087286 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Lrp5 LDL receptor related protein 5 treatment IEP RGD PMID:24510055 RGD:12793062 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link
G Mia MIA SH3 domain containing IEP mRNA:increased expression:head of femur RGD PMID:20579363 RGD:10046018 NCBI chr 1:83,991,577...83,993,270
Ensembl chr 1:83,991,578...83,993,270
JBrowse link
G Plat plasminogen activator, tissue type ISO DNA:insertion:intron:IVS8 (human) RGD PMID:24025446 RGD:11541046 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4326745 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
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 chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
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 ClinVar
OMIM
PMID:25741868 PMID:26633546 PMID:28492532 NCBI chr 6:109,121,524...109,162,433
Ensembl chr 6:109,124,330...109,162,267
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-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 chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
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 7:28,956,363...29,023,232
Ensembl chr 7:28,956,512...29,022,868
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Pathological Conditions, Signs and Symptoms 10189
      Pathologic Processes 6668
        Necrosis 89
          osteonecrosis 24
            Femur Head Necrosis 16
              Legg-Calve-Perthes disease + 3
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      musculoskeletal system disease 6400
        connective tissue disease 4420
          bone disease 3103
            ischemic bone disease 27
              osteonecrosis 24
                Femur Head Necrosis 16
                  Legg-Calve-Perthes disease + 3
paths to the root