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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:chronic ulcer of skin
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Accession:DOID:8549 term browser browse the term
Definition:An ULCER of the skin and underlying tissues.
Synonyms:exact_synonym: callous ulcer;   indolent ulcer;   skin ulcer;   skin ulcers
 primary_id: MESH:D012883
 xref: EFO:0007066;   ICD10CM:L98.4;   ICD9CM:707
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
chronic ulcer of skin term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:19638336 RGD:2315843 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO associated with Scleroderma, Systemic;protein:increased expression:blood RGD PMID:8099861 RGD:8547587 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Itgb2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9653089 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600 		JBrowse link
G Lama3 laminin subunit alpha 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12915477 NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353 		JBrowse link
G Mmp9 matrix metallopeptidase 9 susceptibility ISO associated with Scleroderma, Systemic in males;DNA:SNP:promoter:-1562C>T (rs3918242) (human) RGD PMID:21455563 RGD:8547865 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: therapeutic CTD PMID:24244623 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Pdgfa platelet derived growth factor subunit A IEP RGD PMID:16383039 RGD:2292163 NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha IEP RGD PMID:16383039 RGD:2292163 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335 		JBrowse link
G Pepd peptidase D ISO CTD Direct Evidence: marker/mechanism CTD PMID:16470701 NCBI chr 1:87,536,650...87,681,233
Ensembl chr 1:87,536,609...87,681,231 		JBrowse link
G Plcb3 phospholipase C beta 3 ISO RGD PMID:10669417 RGD:737745 NCBI chr 1:204,143,257...204,160,384
Ensembl chr 1:204,144,956...204,160,228 		JBrowse link
Buruli ulcer disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc11a1 solute carrier family 11 member 1 susceptibility ISO ClinVar Annotator: match by term: Buruli ulcer, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:16395392 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101 		JBrowse link
decubitus ulcer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf2 fibroblast growth factor 2 IEP RGD PMID:23740668 RGD:8655548 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP mRNA, protein:increased expression:deep dorsal muscles (rat) RGD PMID:20223667 RGD:8694460 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Il10 interleukin 10 IEP mRNA:increased expression:skin RGD PMID:26177082 RGD:11049489 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:skin: RGD PMID:12692851 RGD:8551845 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO
IEP		 protein:increased expression:skin: RGD PMID:12692851 PMID:23740668 RGD:8551845, RGD:8655548 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		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 chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		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 chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Crp C-reactive protein disease_progression ISO protein:increased expression:blood: RGD PMID:22712631 RGD:6906887 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO protein:increased expression:dermis RGD PMID:22455314 RGD:7207269 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G H19 H19 imprinted maternally expressed transcript ameliorates ISO RNA:increased expression:foot (human) RGD PMID:33174326 PMID:33174326 RGD:156451663, RGD:156451663 NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134 		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 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B severity ISO DNA:polymorphism: :1538G>A (human) RGD PMID:19731315 RGD:8662463 NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240
Ensembl chr20:3,856,006...3,873,240 		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 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		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 chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820 		JBrowse link
G Itgam integrin subunit alpha M ISO protein:increased expression:pes (human) RGD PMID:37087778 RGD:329853756 NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503 		JBrowse link
G Mbl2 mannose binding lectin 2 ISO protein:increased expression:serum: RGD PMID:19997692 RGD:8694068 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mir17 microRNA 17 ISO RGD PMID:36333728 RGD:329349308 NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712 		JBrowse link
G Mir210 microRNA 210 ISO miRNA:increased expression:blood serum, foot (human) RGD PMID:34293021 RGD:155260332 NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454 		JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO RGD PMID:22688339 RGD:8547813 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Notch1 notch receptor 1 ISO protein:increased expression:skin, epidermis: RGD PMID:30886104 RGD:155646129 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Plat plasminogen activator, tissue type ISO RGD PMID:17275886 RGD:2311669 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Ptx3 pentraxin 3 ISO protein:decreased expression:plasma (human) RGD PMID:30767386 RGD:38501100 NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323 		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 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		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 chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975 		JBrowse link
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 chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
PAPA syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO ClinVar Annotator: match by term: Familial recurrent arthritis | ClinVar Annotator: match by term: Pyogenic arthritis, pyoderma gangrenosum and acne | ClinVar Annotator: match by term: Pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11971877 PMID:14595024 PMID:15580218 PMID:16199547 More... NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580 		JBrowse link
pyoderma gangrenosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mefv MEFV innate immunity regulator, pyrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:skin RGD PMID:21658319 RGD:8657060 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:skin RGD PMID:21658319 RGD:8657060 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580 		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 RGD PMID:16153823 RGD:1626508 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002 		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 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919 		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 chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Lepr leptin receptor ISO mRNA:decreased expression:skin RGD PMID:22773832 RGD:10412021 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Mbl2 mannose binding lectin 2 ISO protein:decreased expression:serum: RGD PMID:19997692 RGD:8694068 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mir21 microRNA 21 ISO miRNA:increased expression:skin: RGD PMID:22773832 RGD:10412021 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      skin disease 3968
        chronic ulcer of skin 44
          Buruli ulcer disease 1
          Dermatoosteolysis Kirghizian Type 0
          decubitus ulcer 5
          pyoderma gangrenosum + 7
          ulcer of lower limbs + 25
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            skin disease 3968
              chronic ulcer of skin 44
                Buruli ulcer disease 1
                Dermatoosteolysis Kirghizian Type 0
                decubitus ulcer 5
                pyoderma gangrenosum + 7
                ulcer of lower limbs + 25
paths to the root