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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:pemphigoid
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Accession:DOID:0080841 term browser browse the term
Definition:An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily. (DO)
Synonyms:exact_synonym: pemphigoids
 xref: NCI:C34908



show annotations for term's descendants           Sort by:
bullous pemphigoid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl26 C-C motif chemokine ligand 26 ISO protein:increased expression:blister, serum (human) RGD PMID:21881593 RGD:11087555 NCBI chr12:26,745,972...26,750,924
Ensembl chr12:21,109,421...21,114,335
JBrowse link
G Cfb complement factor B ISO RGD PMID:17024247 RGD:7421522 NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:plasma RGD PMID:21488867 RGD:5147756 NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:1377725 RGD:8547591 NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:1973607 RGD:8663461 NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:9687525 RGD:8547843 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
cicatricial pemphigoid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clu clusterin ISO mRNA:decreased expression:conjunctiva RGD PMID:12036968 RGD:8699507 NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum (human) RGD PMID:11448121 RGD:8549794 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Ptger3 prostaglandin E receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21966456 NCBI chr 2:249,264,985...249,409,966
Ensembl chr 2:246,606,183...246,684,434
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0201 (human)
DNA:polymorphism:cds:HLA-DQB1*0301 (human)
RGD PMID:9683867 PMID:9008223 RGD:7365096, RGD:7483589 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :DRB1*1101, DRB1*0701(human)
DNA:polymorphism: :HLA-DRB1*04(human)
RGD PMID:9683867 PMID:8052655 RGD:7365096, RGD:7365103 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:Conjunctiva: RGD PMID:7750940 RGD:7394786 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    sensory system disease 7373
      skin disease 4318
        autoimmune disease of skin and connective tissue 193
          pemphigoid 13
            bullous pemphigoid 7
            cicatricial pemphigoid 6
            pemphigoid gestationis 0
Path 2
Term Annotations click to browse term
  disease 19142
    disease of anatomical entity 18455
      nervous system disease 14362
        Neurologic Manifestations 10451
          sensory system disease 7373
            skin disease 4318
              dermatitis 528
                bullous skin disease 168
                  pemphigoid 13
                    bullous pemphigoid 7
                    cicatricial pemphigoid 6
                    pemphigoid gestationis 0
paths to the root