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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 chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425
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 chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646
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 chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
JBrowse link
G CRP C-reactive protein, pentraxin-related disease_progression ISO protein:increased expression:blood: RGD PMID:22712631 RGD:6906887 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
JBrowse link
G GJA1 gap junction protein alpha 1 ISO protein:increased expression:dermis RGD PMID:22455314 RGD:7207269 NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156
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 chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845
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 chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
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 chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,321...85,678,461
JBrowse link
G ITGAM integrin subunit alpha M ISO protein:increased expression:pes (human) RGD PMID:37087778 RGD:329853756 NCBI chr 3:17,216,719...17,272,134
Ensembl chr 3:17,204,610...17,273,613
JBrowse link
G MBL2 mannose binding lectin 2 ISO protein:increased expression:serum: RGD PMID:19997692 RGD:8694068 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
JBrowse link
G MIR17 microRNA mir-17 ISO RGD PMID:36333728 RGD:329349308 NCBI chr11:60,734,656...60,734,732
Ensembl chr11:60,734,656...60,734,732
JBrowse link
G MMP9 matrix metallopeptidase 9 severity ISO RGD PMID:22688339 RGD:8547813 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
JBrowse link
G NOTCH1 notch receptor 1 ISO protein:increased expression:skin, epidermis: RGD PMID:30886104 RGD:155646129
G PLAT plasminogen activator, tissue type ISO RGD PMID:17275886 RGD:2311669 NCBI chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032
JBrowse link
G PTX3 pentraxin 3 ISO protein:decreased expression:plasma (human) RGD PMID:30767386 RGD:38501100 NCBI chr13:97,273,594...97,279,570
Ensembl chr13:97,273,594...97,279,569
JBrowse link
G TLR4 toll like receptor 4 susceptibility ISO DNA:SNPs,haplotype: :rs4986790,rs4986791,rs10759931,rs1927911(human); RGD PMID:23936790 RGD:7777174 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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 chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
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 chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363
JBrowse link
G ESR2 estrogen receptor 2 ISO DNA:polymorphism:intron:(CA) dinucleotide repeat (human)
DNA:SNPs:promoter, exon
RGD PMID:16153823 PMID:18070128 RGD:1626508 RGD:8553061 NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565
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 chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,767,000
JBrowse link
G LEPR leptin receptor ISO mRNA:decreased expression:skin RGD PMID:22773832 RGD:10412021 NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995
JBrowse link
G MBL2 mannose binding lectin 2 ISO protein:decreased expression:serum: RGD PMID:19997692 RGD:8694068 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
JBrowse link
G MIR21 microRNA mir-21 ISO miRNA:increased expression:skin: RGD PMID:22773832 RGD:10412021 NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15275
    sensory system disease 6529
      skin disease 3713
        chronic ulcer of skin 41
          ulcer of lower limbs 22
            Leg Ulcer 22
              Familial Leg Ulcers of Juvenile Onset 0
              Foot Ulcer + 16
              Varicose Ulcer 6
Path 2
Term Annotations click to browse term
  disease 15275
    Pathological Conditions, Signs and Symptoms 11809
      Signs and Symptoms 9748
        Neurologic Manifestations 9430
          sensory system disease 6529
            skin disease 3713
              chronic ulcer of skin 41
                ulcer of lower limbs 22
                  Leg Ulcer 22
                    Familial Leg Ulcers of Juvenile Onset 0
                    Foot Ulcer + 16
                    Varicose Ulcer 6
paths to the root