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
Accession: DOID:9001347
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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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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NOTCH1
notch receptor 1
ISO
protein:increased expression:skin, epidermis:
RGD
PMID:30886104
RGD:155646129
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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