ONTOLOGY REPORT - ANNOTATIONS


Term:vesiculobullous skin disease
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Accession:DOID:2731 term browser browse the term
Definition:Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)
Synonyms:exact_synonym: Vesicular Skin Disease;   Vesicular Skin Diseases;   Vesiculobullous Dermatoses;   vesiculobullous skin diseases
 primary_id: MESH:D012872;   RDO:0001339
For additional species annotation, visit the Alliance of Genome Resources.


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vesiculobullous skin disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fermt1 fermitin family member 1 JBrowse link 3 125,566,744 125,607,864 RGD:1600405
atrichia with papular lesions term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hr HR, lysine demethylase and nuclear receptor corepressor JBrowse link 15 52,241,801 52,261,276 RGD:7240710
RGD:8554872
G Odc1 ornithine decarboxylase 1 JBrowse link 6 42,852,529 42,859,142 RGD:13592920
autosomal dominant dystrophic epidermolysis bullosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:7240710
RGD:8554872
Blister term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam17 ADAM metallopeptidase domain 17 JBrowse link 6 43,400,525 43,448,280 RGD:11554173
G Anxa1 annexin A1 JBrowse link 1 237,893,983 237,910,002 RGD:7421575
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:8554872
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
G Ppox protoporphyrinogen oxidase JBrowse link 13 89,650,094 89,654,998 RGD:8554872
bullous pemphigoid term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccl26 C-C motif chemokine ligand 26 JBrowse link 12 24,157,182 24,161,870 RGD:11087555
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:7421522
G Col17a1 collagen type XVII alpha 1 chain JBrowse link 1 267,416,681 267,465,049 RGD:13592920
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:5147756
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:8547591
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:8663461
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8547843
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:7421578
cicatricial pemphigoid term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clu clusterin JBrowse link 15 42,626,612 42,665,858 RGD:8699507
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:8549794
G Ptger3 prostaglandin E receptor 3 JBrowse link 2 263,895,093 263,979,682 RGD:11554173
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:7365096
RGD:7483589
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:7365096
RGD:7365103
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:7394786
dermatitis herpetiformis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:9585750
G Lta lymphotoxin alpha JBrowse link 20 4,851,889 4,854,677 RGD:8548777
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:8548777
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:7421578
Eosinophilic Pustular Folliculitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccl26 C-C motif chemokine ligand 26 JBrowse link 12 24,157,182 24,161,870 RGD:11081159
epidermolysis bullosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Exph5 exophilin 5 JBrowse link 8 57,885,932 57,962,574 RGD:11554173
G Itgb4 integrin subunit beta 4 JBrowse link 10 104,524,000 104,560,180 RGD:11554173
epidermolysis bullosa dystrophica term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:1600946
RGD:8554872
RGD:7240710
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12743601
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:7240710
RGD:8549728
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:8554872
Epidermolysis Bullosa Pruriginosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:7240710
RGD:8554872
epidermolysis bullosa simplex term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dst dystonin JBrowse link 9 37,902,336 38,296,961 RGD:13592920
G Itgb4 integrin subunit beta 4 JBrowse link 10 104,524,000 104,560,180 RGD:7240710
RGD:8554872
G Klhl24 kelch-like family member 24 JBrowse link 11 84,613,101 84,643,674 RGD:8554872
G Krt14 keratin 14 JBrowse link 10 88,118,029 88,122,233 RGD:1600173
RGD:8554872
RGD:7240710
G Krt5 keratin 5 JBrowse link 7 143,320,142 143,324,536 RGD:1600195
RGD:8554872
RGD:7240710
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204851
G Plec plectin JBrowse link 7 117,230,319 117,291,859 RGD:1599911
epidermolysis bullosa simplex Dowling-Meara type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt14 keratin 14 JBrowse link 10 88,118,029 88,122,233 RGD:8554872
RGD:7240710
G Krt5 keratin 5 JBrowse link 7 143,320,142 143,324,536 RGD:8554872
RGD:7240710
epidermolysis bullosa simplex Ogna type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plec plectin JBrowse link 7 117,230,319 117,291,859 RGD:7240710
RGD:8554872
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt5 keratin 5 JBrowse link 7 143,320,142 143,324,536 RGD:7240710
RGD:8554872
Epidermolysis Bullosa Simplex with Mottled Pigmentation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt5 keratin 5 JBrowse link 7 143,320,142 143,324,536 RGD:7240710
RGD:8554872
epidermolysis bullosa simplex with muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plec plectin JBrowse link 7 117,230,319 117,291,859 RGD:7240710
RGD:8554872
Epidermolysis Bullosa Simplex with Nail Dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plec plectin JBrowse link 7 117,230,319 117,291,859 RGD:7240710
RGD:8554872
Epidermolysis Bullosa Simplex With Pyloric Atresia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plec plectin JBrowse link 7 117,230,319 117,291,859 RGD:7240710
RGD:8554872
Epidermolysis Bullosa Simplex, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dst dystonin JBrowse link 9 37,902,336 38,296,961 RGD:11554173
G Krt14 keratin 14 JBrowse link 10 88,118,029 88,122,233 RGD:7240710
RGD:8554872
G Krt5 keratin 5 JBrowse link 7 143,320,142 143,324,536 RGD:7240710
RGD:8554872
Epidermolysis Bullosa Simplex, Autosomal Recessive 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dst dystonin JBrowse link 9 37,902,336 38,296,961 RGD:7240710
RGD:8554872
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klhl24 kelch-like family member 24 JBrowse link 11 84,613,101 84,643,674 RGD:8554872
RGD:7240710
Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:7240710
RGD:8554872
Epidermolysis Bullosa, Lethal Acantholytic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:7240710
RGD:8554872
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Exph5 exophilin 5 JBrowse link 8 57,885,932 57,962,574 RGD:7240710
RGD:8554872
erythema multiforme term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd40 CD40 molecule JBrowse link 3 161,519,789 161,534,943 RGD:8547765
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:8547765
G Masp2 mannan-binding lectin serine peptidase 2 JBrowse link 5 165,415,105 165,429,857 RGD:11554173
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:5147868
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:7421578
Hailey-Hailey disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp2c1 ATPase secretory pathway Ca2+ transporting 1 JBrowse link 8 113,953,959 114,039,965 RGD:7240710
RGD:8554872
RGD:11554173
hypotrichosis and recurrent skin vesicles term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsc3 desmocollin 3 JBrowse link 18 11,753,047 11,789,846 RGD:8554872
RGD:7240710
Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itga3 integrin subunit alpha 3 JBrowse link 10 82,855,841 82,887,755 RGD:7240710
RGD:8554872
junctional epidermolysis bullosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col17a1 collagen type XVII alpha 1 chain JBrowse link 1 267,416,681 267,465,049 RGD:1600884
RGD:8554872
G Itga6 integrin subunit alpha 6 JBrowse link 3 58,442,904 58,515,124 RGD:1600016
G Itgb4 integrin subunit beta 4 JBrowse link 10 104,524,000 104,560,180 RGD:11554173
G Lama3 laminin subunit alpha 3 JBrowse link 18 3,704,866 3,941,215 RGD:1600080
RGD:8554872
RGD:11554173
G Lamb3 laminin subunit beta 3 JBrowse link 13 112,031,614 112,073,187 RGD:1600209
RGD:8554872
RGD:11554173
G Lamc2 laminin subunit gamma 2 JBrowse link 13 70,566,643 70,632,126 RGD:1600210
RGD:8554872
RGD:11554173
junctional epidermolysis bullosa Herlitz type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itga6 integrin subunit alpha 6 JBrowse link 3 58,442,904 58,515,124 RGD:13592920
G Lama3 laminin subunit alpha 3 JBrowse link 18 3,704,866 3,941,215 RGD:8554872
RGD:7240710
G Lamb3 laminin subunit beta 3 JBrowse link 13 112,031,614 112,073,187 RGD:8554872
RGD:7240710
G Lamc2 laminin subunit gamma 2 JBrowse link 13 70,566,643 70,632,126 RGD:8554872
RGD:7240710
junctional epidermolysis bullosa non-Herlitz type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col17a1 collagen type XVII alpha 1 chain JBrowse link 1 267,416,681 267,465,049 RGD:7240710
RGD:8554872
RGD:11554173
G Itgb4 integrin subunit beta 4 JBrowse link 10 104,524,000 104,560,180 RGD:7240710
RGD:8554872
G Lama3 laminin subunit alpha 3 JBrowse link 18 3,704,866 3,941,215 RGD:7240710
RGD:8554872
G Lamb3 laminin subunit beta 3 JBrowse link 13 112,031,614 112,073,187 RGD:7240710
RGD:8554872
G Lamc2 laminin subunit gamma 2 JBrowse link 13 70,566,643 70,632,126 RGD:7240710
RGD:8554872
RGD:11554173
junctional epidermolysis bullosa with pyloric atresia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Galk1 galactokinase 1 JBrowse link 10 104,560,322 104,564,499 RGD:8554872
G Itga6 integrin subunit alpha 6 JBrowse link 3 58,442,904 58,515,124 RGD:7240710
RGD:8554872
G Itgb4 integrin subunit beta 4 JBrowse link 10 104,524,000 104,560,180 RGD:7240710
RGD:8554872
RGD:11554173
G Plec plectin JBrowse link 7 117,230,319 117,291,859 RGD:8554872
RGD:11554173
Kindler syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fermt1 fermitin family member 1 JBrowse link 3 125,566,744 125,607,864 RGD:8554872
RGD:7240710
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd151 CD151 molecule (Raph blood group) JBrowse link 1 214,446,659 214,450,668 RGD:7240710
RGD:8554872
pemphigus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:11554173
G Cast calpastatin JBrowse link 2 1,452,111 1,561,669 RGD:5509814
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:9479165
G Cd36 CD36 molecule JBrowse link 4 14,150,309 14,191,498 RGD:5490304
G Cd40 CD40 molecule JBrowse link 3 161,519,789 161,534,943 RGD:5490304
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:8547773
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:8693324
G Mbl2 mannose binding lectin 2 JBrowse link 1 248,435,069 248,442,669 RGD:8693728
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:5147619
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:5147619
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:5147619
pemphigus vulgaris term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsg3 desmoglein 3 JBrowse link 18 15,652,948 15,688,605 RGD:13592920
Pretibial Epidermolysis Bullosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:7240710
RGD:8554872
recessive dystrophic epidermolysis bullosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:8554872
RGD:13592920
G Grip1 glutamate receptor interacting protein 1 JBrowse link 7 64,672,723 64,854,939 RGD:13592920
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:13592920
Stevens-Johnson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alb albumin JBrowse link 14 19,176,275 19,191,793 RGD:11554173
G Cav1 caveolin 1 JBrowse link 4 44,597,123 44,630,206 RGD:11554173
G Celf2 CUGBP, Elav-like family member 2 JBrowse link 17 75,259,269 75,660,154 RGD:11554173
G Clu clusterin JBrowse link 15 42,626,612 42,665,858 RGD:8699507
G Cops5 COP9 signalosome subunit 5 JBrowse link 5 8,876,090 8,894,345 RGD:11554173
G Csf3 colony stimulating factor 3 JBrowse link 10 86,616,785 86,619,160 RGD:11554173
G Ctnnb1 catenin beta 1 JBrowse link 8 129,601,511 129,628,378 RGD:11554173
G Cul1 cullin 1 JBrowse link 4 77,211,814 77,283,369 RGD:11554173
G Cul4a cullin 4A JBrowse link 16 81,718,784 81,756,653 RGD:11554173
G Derl1 derlin 1 JBrowse link 7 97,737,176 97,759,852 RGD:11554173
G Elmo1 engulfment and cell motility 1 JBrowse link 17 46,352,102 46,888,788 RGD:11554173
G Ep300 E1A binding protein p300 JBrowse link 7 122,818,194 122,889,055 RGD:11554173
G Fbxo6 F-box protein 6 JBrowse link 5 164,956,285 164,962,075 RGD:11554173
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:11554173
G LOC100364500 RT1 class I, locus CE11-like JBrowse link 20 2,704,153 2,707,111 RGD:7240710
RGD:8554872
G Mif macrophage migration inhibitory factor JBrowse link 20 13,715,219 13,732,980 RGD:11554173
G Nedd4 neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase JBrowse link 8 79,323,408 79,408,842 RGD:11554173
G Nfkbiz NFKB inhibitor zeta JBrowse link 11 47,243,342 47,271,487 RGD:13592920
G Nos2 nitric oxide synthase 2 JBrowse link 10 66,188,290 66,221,621 RGD:11554173
G Nucb1 nucleobindin 1 JBrowse link 1 101,480,160 101,511,029 RGD:11554173
G Parp1 poly (ADP-ribose) polymerase 1 JBrowse link 13 98,857,255 98,889,444 RGD:11554173
G Pml promyelocytic leukemia JBrowse link 8 63,002,515 63,034,310 RGD:11554173
G Psmc5 proteasome 26S subunit, ATPase 5 JBrowse link 10 94,445,877 94,451,811 RGD:11554173
G Ptger3 prostaglandin E receptor 3 JBrowse link 2 263,895,093 263,979,682 RGD:11554173
G Ptgis prostaglandin I2 synthase JBrowse link 3 163,950,746 163,986,129 RGD:11554173
G Rb1 RB transcriptional corepressor 1 JBrowse link 15 55,081,582 55,209,060 RGD:11554173
G Rbx1 ring-box 1 JBrowse link 7 122,700,849 122,710,907 RGD:11554173
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:7483570
G RT1-CE13 RT1 class I, locus CE13 RGD:7364874
RGD:7365090
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:7401184
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:11554173
Transient Bullous Dermolysis of the Newborn term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      skin disease 2253
        vesiculobullous skin disease 81
          Acantholysis + 0
          Blister + 7
          Cutaneous Bullous Amyloidosis 0
          Eosinophilic Pustular Folliculitis 1
          Hydroa Vacciniforme + 0
          Linear IgA Bullous Dermatosis 0
          Papular Urticaria 0
          atrichia with papular lesions 2
          bullous pemphigoid 8
          bullous skin disease + 20
          cicatricial pemphigoid 6
          dermatitis herpetiformis + 4
          epidermolysis bullosa + 22
          erythema multiforme + 35
          pemphigoid gestationis 0
          pompholyx 0
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            vesiculobullous skin disease 81
              Acantholysis + 0
              Blister + 7
              Cutaneous Bullous Amyloidosis 0
              Eosinophilic Pustular Folliculitis 1
              Hydroa Vacciniforme + 0
              Linear IgA Bullous Dermatosis 0
              Papular Urticaria 0
              atrichia with papular lesions 2
              bullous pemphigoid 8
              bullous skin disease + 20
              cicatricial pemphigoid 6
              dermatitis herpetiformis + 4
              epidermolysis bullosa + 22
              erythema multiforme + 35
              pemphigoid gestationis 0
              pompholyx 0
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.