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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:pemphigus
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Accession:DOID:9182 term browser browse the term
Definition:An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured. (DO)
Synonyms:narrow_synonym: IgG/IgA pemphigus;   drug-induced pemphigus;   radiotherapy-induced pemphigus
 primary_id: MESH:D010392
 xref: EFO:0008605;   EFO:0008607;   EFO:0008608;   EFO:1000749;   GARD:7352;   ICD10CM:L10;   ICD9CM:694.4;   NCI:C34909;   ORDO:79481



show annotations for term's descendants           Sort by:
pemphigus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:74171 NCBI chr 9:2,174,412...2,201,339 JBrowse link
G Cast calpastatin ISO RGD PMID:16314468 RGD:5509814 NCBI chr 2:5,707,633...5,817,213 JBrowse link
G Cat catalase ISO protein:increased activities:skin: RGD PMID:22738420 RGD:9479165 NCBI chr 3:110,297,340...110,329,526 JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:21255096 RGD:5490304 NCBI chr 4:18,209,088...18,302,142 JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:21255096 RGD:5490304 NCBI chr 3:174,209,113...174,224,592 JBrowse link
G Cd40lg CD40 ligand ISO mRNA, protein:increased expression:skin, serum RGD PMID:17531537 RGD:8547773 NCBI chr  X:140,164,341...140,176,057 JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6432916 RGD:8693324 NCBI chr 2:121,932,968...121,937,672 JBrowse link
G Mbl2 mannose binding lectin 2 ISO protein:increased expression:skin: RGD PMID:21327568 RGD:8693728 NCBI chr 1:237,429,873...237,465,567 JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphisms:cds:HLA-DQA1*0104, HLA-DQA1*03011 (human) RGD PMID:18780165 RGD:5147619 NCBI chr20:4,575,134...4,579,727 JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms:cds:HLA-DQB1*0302, HLA-DQB1*0502 (human) RGD PMID:18780165 RGD:5147619 NCBI chr20:4,598,475...4,604,118 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms (human)
DNA:polymorphism:cds:HLA-DRB1*0403, *0406, *1401, *1405, *1406 (human)
RGD PMID:9347787 PMID:18780165 RGD:40818304, RGD:5147619 NCBI chr20:4,548,664...4,558,237 JBrowse link
Hailey-Hailey disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2c1 ATPase secretory pathway Ca2+ transporting 1 ISO ClinVar Annotator: match by term: ATP2C1-related condition | ClinVar Annotator: match by term: Familial benign pemphigus
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3978039 PMID:10615129 PMID:10767338 PMID:11450592 PMID:11874499 More... NCBI chr 8:106,034,777...106,155,854 JBrowse link
pemphigus vulgaris term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg3 desmoglein 3 ISS OMIM:169610 MouseDO NCBI chr18:11,799,355...11,830,988 JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO RGD PMID:28197992 RGD:14747041 NCBI chr20:4,598,475...4,604,118 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    sensory system disease 7376
      skin disease 4320
        autoimmune disease of skin and connective tissue 194
          pemphigus 13
            Hailey-Hailey disease 1
            IgA pemphigus 0
            Pemphigus and Fogo Selvagem 0
            paraneoplastic pemphigus 0
            pemphigus erythematosus 0
            pemphigus foliaceus 0
            pemphigus gestationis 0
            pemphigus herpetiformis 0
            pemphigus vulgaris + 2
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        Neurologic Manifestations 10448
          sensory system disease 7376
            skin disease 4320
              dermatitis 529
                bullous skin disease 168
                  pemphigus 13
                    Hailey-Hailey disease 1
                    IgA pemphigus 0
                    Pemphigus and Fogo Selvagem 0
                    paraneoplastic pemphigus 0
                    pemphigus erythematosus 0
                    pemphigus foliaceus 0
                    pemphigus gestationis 0
                    pemphigus herpetiformis 0
                    pemphigus vulgaris + 2
paths to the root