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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:cicatricial pemphigoid
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Accession:DOID:11656 term browser browse the term
Definition:A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin. (DO)
Synonyms:exact_synonym: Ocular Cicatricial Pemphigoid;   benign mucosal pemphigoid;   benign mucosal pemphigoids;   benign mucous membrane pemphigoid;   benign mucous membrane pemphigoid with ocular involvement;   cicatricial pemphigoid with ocular involvement;   mucous membrane pemphigoid;   ocular cicatricial pemphigoids;   ocular pemphigoid;   ocular pemphigus
 narrow_synonym: localised cicatricial pemphigoid;   vegetating cicatricial pemphigoid
 primary_id: MESH:D010390
 alt_id: MIM:164185
 xref: EFO:0008610;   EFO:0008611;   EFO:0008612;   EFO:1000680;   GARD:5913;   ICD10CM:L12.1;   ICD9CM:694.6;   ICD9CM:694.61;   NCI:C34907
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 chr15:40,161,068...40,200,315
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 3:7,111,567...7,127,451
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 2:246,606,131...246,750,970
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 chr20:4,596,558...4,602,201
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 chr20:4,548,664...4,558,237
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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    sensory system disease 7373
      eye disease 3721
        conjunctival disease 60
          cicatricial pemphigoid 6
Path 2
Term Annotations click to browse term
  disease 19134
    Pathological Conditions, Signs and Symptoms 13622
      Signs and Symptoms 11210
        Neurologic Manifestations 10445
          sensory system disease 7373
            skin disease 4319
              dermatitis 529
                bullous skin disease 168
                  pemphigoid 13
                    cicatricial pemphigoid 6
paths to the root