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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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:74171 NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699 		JBrowse link
G CAST calpastatin ISO RGD PMID:16314468 RGD:5509814 NCBI chr 5:91,972,572...92,084,657
Ensembl chr 5:97,527,071...97,636,650 		JBrowse link
G CAT catalase ISO protein:increased activities:skin: RGD PMID:22738420 RGD:9479165 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO RGD PMID:21255096 RGD:5490304 NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865 		JBrowse link
G CD40 CD40 molecule ISO RGD PMID:21255096 RGD:5490304 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994 		JBrowse link
G CD40LG CD40 ligand ISO mRNA, protein:increased expression:skin, serum RGD PMID:17531537 RGD:8547773 NCBI chr  X:125,776,138...125,788,820
Ensembl chr  X:136,042,849...136,058,202 		JBrowse link
G IL2 interleukin 2 ISO RGD PMID:6432916 RGD:8693324 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984 		JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain ISO DNA:polymorphisms:cds:HLA-DQB1*0302, HLA-DQB1*0502 (human) RGD PMID:18780165 RGD:5147619 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272 		JBrowse link
G MBL2 mannose binding lectin 2 ISO protein:increased expression:skin: RGD PMID:21327568 RGD:8693728 NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432 		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 OMIM
ClinVar		 PMID:3978039 PMID:10615129 PMID:10767338 PMID:11874499 PMID:15545997 More... NCBI chr 3:127,937,272...128,101,060
Ensembl chr 3:135,260,796...135,423,700 		JBrowse link
pemphigus vulgaris term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSG3 desmoglein 3 ISO OMIM:169610 MouseDO NCBI chr18:24,664,969...24,695,271
Ensembl chr18:28,262,860...28,293,879 		JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain ISO RGD PMID:28197992 RGD:14747041 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15687
    sensory system disease 6718
      skin disease 3879
        autoimmune disease of skin and connective tissue 195
          pemphigus 11
            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 15687
    disease of anatomical entity 15313
      nervous system disease 13351
        Neurologic Manifestations 9715
          sensory system disease 6718
            skin disease 3879
              dermatitis 478
                bullous skin disease 169
                  pemphigus 11
                    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