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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:A bullous skin disease that is characterized by blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals). (DO)
Synonyms:exact_synonym: pemphigus foliaceus
 primary_id: MESH:D010392
 xref: GARD:7352;   ICD10CM:L10;   ICD9CM:694.4;   NCI:C34909;   ORDO:79481
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
pemphigus term browser
Symbol Object Name 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 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Cast calpastatin ISO RGD PMID:16314468 RGD:5509814 NCBI chr 2:1,452,111...1,561,669
Ensembl chr 2:1,452,116...1,561,464
JBrowse link
G Cat catalase ISO protein:increased activities:skin: RGD PMID:22738420 RGD:9479165 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:21255096 RGD:5490304 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:21255096 RGD:5490304 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand ISO mRNA, protein:increased expression:skin, serum RGD PMID:17531537 RGD:8547773 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6432916 RGD:8693324 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Mbl2 mannose binding lectin 2 ISO protein:increased expression:skin: RGD PMID:21327568 RGD:8693728 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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 chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphisms (human) RGD PMID:18780165 RGD:5147619 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
Hailey-Hailey disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2c1 ATPase secretory pathway Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Familial benign pemphigus
ClinVar Annotator: match by OMIM:169600
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3978039, PMID:10615129, PMID:10767338, PMID:11450592, PMID:11874499, PMID:15545997, PMID:16621454, PMID:20338123, PMID:21883398, PMID:25741868, PMID:28492532 NCBI chr 8:113,953,959...114,039,965
Ensembl chr 8:113,955,647...114,013,623
JBrowse link
pemphigus vulgaris term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg3 desmoglein 3 ISS OMIM:169610 MouseDO NCBI chr18:15,652,948...15,688,605
Ensembl chr18:15,650,526...15,688,284
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO RGD PMID:28197992 RGD:14747041 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        autoimmune disease of musculoskeletal system 935
          pemphigus 13
            Hailey-Hailey disease 1
            Pemphigus and Fogo Selvagem 0
            pemphigus vulgaris 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Immune & Inflammatory Diseases 3513
        immune system disease 2927
          primary immunodeficiency disease 2344
            autoimmune disease 1663
              autoimmune disease of musculoskeletal system 935
                pemphigus 13
                  Hailey-Hailey disease 1
                  Pemphigus and Fogo Selvagem 0
                  pemphigus vulgaris 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.