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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:Leg Ulcer
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Accession:DOID:9001347 term browser browse the term
Definition:Ulceration of the skin and underlying structures of the lower extremity. About 90% of the cases are due to venous insufficiency (VARICOSE ULCER), 5% to arterial disease, and the remaining 5% to other causes.
Synonyms:exact_synonym: Leg Ulcers
 primary_id: MESH:D007871


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Leg Ulcer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO associated with chronic venous insufficiency;DNA:SNP:3' utr: (human) RGD PMID:15854058 RGD:155663562 NCBI chrNW_004624737:25,052,698...25,158,346
Ensembl chrNW_004624737:25,052,606...25,158,529
JBrowse link
Diabetic Foot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:decreased expression:plasma RGD PMID:20836881 RGD:5686889 NCBI chrNW_004624730:69,941,963...69,959,266
Ensembl chrNW_004624730:69,941,001...69,957,012
JBrowse link
G Ager advanced glycosylation end-product specific receptor ISO associated with Diabetes Mellitus, Type 2;protein:decreased expression:blood RGD PMID:21941211 RGD:6767555 NCBI chrNW_004624754:24,138,086...24,140,900 JBrowse link
G Crp C-reactive protein disease_progression ISO protein:increased expression:blood: RGD PMID:22712631 RGD:6906887 NCBI chrNW_004624794:1,531,555...1,533,804
Ensembl chrNW_004624794:1,531,571...1,533,804
JBrowse link
G Gja1 gap junction protein alpha 1 ISO protein:increased expression:dermis RGD PMID:22455314 RGD:7207269 NCBI chrNW_004624798:9,358,996...9,364,413
Ensembl chrNW_004624798:9,359,004...9,364,313
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO mRNA,protein:decreased expression:blood serum, foot (human) RGD PMID:34293021 RGD:155260332 NCBI chrNW_004624734:39,414,458...39,471,705
Ensembl chrNW_004624734:39,411,824...39,471,705
JBrowse link
G Igf1 insulin like growth factor 1 ISO protein:decreased expression:fibroblast of dermis,stratum basale of epidermis: RGD PMID:10727985 RGD:8549356 NCBI chrNW_004624750:5,881,065...5,954,799
Ensembl chrNW_004624750:5,881,091...5,952,300
JBrowse link
G Il15 interleukin 15 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:dermis, endothelial cell RGD PMID:17014667 RGD:2313575 NCBI chrNW_004624853:1,059,625...1,144,799
Ensembl chrNW_004624853:1,128,519...1,144,941
JBrowse link
G Itgam integrin subunit alpha M ISO protein:increased expression:pes (human) RGD PMID:37087778 RGD:329853756 NCBI chrNW_004624782:14,316,505...14,367,841
Ensembl chrNW_004624782:14,318,499...14,367,922
JBrowse link
G Mbl2 mannose binding lectin 2 ISO protein:increased expression:serum: RGD PMID:19997692 RGD:8694068 NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297
JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO RGD PMID:22688339 RGD:8547813 NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713
JBrowse link
G Notch1 notch receptor 1 ISO protein:increased expression:skin, epidermis: RGD PMID:30886104 RGD:155646129 NCBI chrNW_004624760:1,636,331...1,676,398
Ensembl chrNW_004624760:1,634,702...1,676,531
JBrowse link
G Plat plasminogen activator, tissue type ISO RGD PMID:17275886 RGD:2311669 NCBI chrNW_004624780:1,014,429...1,063,636
Ensembl chrNW_004624780:1,028,085...1,063,649
JBrowse link
G Ptx3 pentraxin 3 ISO protein:decreased expression:plasma (human) RGD PMID:30767386 RGD:38501100 NCBI chrNW_004624730:35,125,536...35,131,645
Ensembl chrNW_004624730:35,125,605...35,131,367
JBrowse link
G Tlr4 toll like receptor 4 susceptibility ISO DNA:SNPs,haplotype: :rs4986790,rs4986791,rs10759931,rs1927911(human); RGD PMID:23936790 RGD:7777174 NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120
JBrowse link
Foot Ulcer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcl10 C-X-C motif chemokine ligand 10 ISO associated with Diabetes Mellitus RGD PMID:19509015 RGD:2311355 NCBI chrNW_004624757:14,989,241...14,991,650
Ensembl chrNW_004624757:14,989,084...14,991,910
JBrowse link
Varicose Ulcer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 no_association ISO DNA:polymorphism:(TA) dinucleotide repeat RGD PMID:16153823 RGD:1626508 NCBI chrNW_004624785:6,164,507...6,601,302
Ensembl chrNW_004624785:6,164,379...6,601,326
JBrowse link
G Esr2 estrogen receptor 2 ISO DNA:SNPs:promoter, exon
DNA:polymorphism:intron:(CA) dinucleotide repeat (human)
RGD PMID:16153823 PMID:18070128 RGD:1626508 RGD:8553061 NCBI chrNW_004624734:36,742,913...36,862,993
Ensembl chrNW_004624734:36,759,104...36,825,295
JBrowse link
G Hfe homeostatic iron regulator susceptibility
onset
ISO associated with Chronic Venous Disease;DNA:missense mutation:cds:p.C282Y (human)
associated with Chronic Venous Disease;DNA:missense mutation:cds:p.H63D (human)
RGD PMID:16102632 PMID:16678024 RGD:1582685 RGD:8694379 NCBI chrNW_004624756:821,738...831,482
Ensembl chrNW_004624756:823,947...831,376
JBrowse link
G Lepr leptin receptor ISO mRNA:decreased expression:skin RGD PMID:22773832 RGD:10412021 NCBI chrNW_004624742:29,221,742...29,313,273
Ensembl chrNW_004624742:29,223,392...29,337,049
JBrowse link
G Mbl2 mannose binding lectin 2 ISO protein:decreased expression:serum: RGD PMID:19997692 RGD:8694068 NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14089
    sensory system disease 6154
      skin disease 3489
        chronic ulcer of skin 39
          ulcer of lower limbs 20
            Leg Ulcer 20
              Familial Leg Ulcers of Juvenile Onset 0
              Foot Ulcer + 15
              Varicose Ulcer 5
Path 2
Term Annotations click to browse term
  disease 14089
    Pathological Conditions, Signs and Symptoms 10991
      Signs and Symptoms 9103
        Neurologic Manifestations 8807
          sensory system disease 6154
            skin disease 3489
              chronic ulcer of skin 39
                ulcer of lower limbs 20
                  Leg Ulcer 20
                    Familial Leg Ulcers of Juvenile Onset 0
                    Foot Ulcer + 15
                    Varicose Ulcer 5
paths to the root