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ONTOLOGY REPORT - ANNOTATIONS


Term:epidermolysis bullosa
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Accession:DOID:2730 term browser browse the term
Definition:Group of genetically determined disorders characterized by the blistering of skin and mucosae. There are four major forms: acquired, simple, junctional, and dystrophic. Each of the latter three has several varieties.
Synonyms:exact_synonym: Acantholysis Bullosa
 primary_id: MESH:D004820;   RDO:0000630
 xref: GARD:6359;   ICD10CM:Q81;   ICD10CM:Q81.9;   NCI:C67383
For additional species annotation, visit the Alliance of Genome Resources.


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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
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
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:8554872
RGD:11554173
G Krt14 keratin 14 JBrowse link 10 88,118,029 88,122,233 RGD:1600173
RGD:11554173
RGD:8554872
G Krt5 keratin 5 JBrowse link 7 143,320,142 143,324,536 RGD:1600195
RGD:8554872
RGD:11554173
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 generalized type 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
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 localized type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itgb4 integrin subunit beta 4 JBrowse link 10 104,524,000 104,560,180 RGD:7240710
G Krt14 keratin 14 JBrowse link 10 88,118,029 88,122,233 RGD:7240710
G Krt5 keratin 5 JBrowse link 7 143,320,142 143,324,536 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 Adck5 aarF domain containing kinase 5 JBrowse link 7 117,643,976 117,661,789 RGD:8554872
G Bop1 BOP1 ribosomal biogenesis factor JBrowse link 7 117,514,529 117,538,342 RGD:8554872
G Cpsf1 cleavage and polyadenylation specific factor 1 JBrowse link 7 117,661,779 117,672,373 RGD:8554872
G Cyc1 cytochrome c-1 JBrowse link 7 117,409,576 117,411,953 RGD:8554872
G Cyhr1 cysteine and histidine rich 1 JBrowse link 7 117,720,909 117,722,734 RGD:8554872
G Dgat1 diacylglycerol O-acyltransferase 1 JBrowse link 7 117,566,363 117,576,735 RGD:8554872
G Exosc4 exosome component 4 JBrowse link 7 117,390,302 117,393,044 RGD:8554872
G Fbxl6 F-box and leucine-rich repeat protein 6 JBrowse link 7 117,602,056 117,604,954 RGD:8554872
G Foxh1 forkhead box H1 JBrowse link 7 117,730,307 117,733,076 RGD:8554872
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 JBrowse link 7 117,394,367 117,397,950 RGD:8554872
G Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 JBrowse link 7 117,304,742 117,307,916 RGD:8554872
G Hgh1 HGH1 homolog JBrowse link 7 117,434,419 117,437,208 RGD:8554872
G Hsf1 heat shock transcription factor 1 JBrowse link 7 117,538,523 117,565,478 RGD:8554872
G Kifc2 kinesin family member C2 JBrowse link 7 117,722,732 117,730,702 RGD:8554872
G Maf1 MAF1 homolog, negative regulator of RNA polymerase III JBrowse link 7 117,417,643 117,420,722 RGD:8554872
G Mroh1 maestro heat-like repeat family member 1 JBrowse link 7 117,445,191 117,472,418 RGD:8554872
G Oplah 5-oxoprolinase (ATP-hydrolysing) JBrowse link 7 117,353,951 117,394,205 RGD:8554872
G Parp10 poly (ADP-ribose) polymerase family, member 10 JBrowse link 7 117,291,592 117,300,878 RGD:8554872
G Plec plectin JBrowse link 7 117,230,319 117,291,859 RGD:7240710
RGD:8554872
G Scrt1 scratch family transcriptional repressor 1 JBrowse link 7 117,583,453 117,587,103 RGD:8554872
G Scx scleraxis bHLH transcription factor JBrowse link 7 117,519,075 117,521,093 RGD:8554872
G Sharpin SHANK-associated RH domain interactor JBrowse link 7 117,413,151 117,417,455 RGD:8554872
G Slc39a4 solute carrier family 39 member 4 JBrowse link 7 117,675,718 117,682,586 RGD:8554872
G Slc52a2 solute carrier family 52 member 2 JBrowse link 7 117,605,038 117,608,460 RGD:8554872
G Spatc1 spermatogenesis and centriole associated 1 JBrowse link 7 117,326,279 117,349,957 RGD:8554872
G Tmem249 transmembrane protein 249 JBrowse link 7 117,599,001 117,601,894 RGD:8554872
G Tonsl tonsoku-like, DNA repair protein JBrowse link 7 117,688,397 117,703,139 RGD:8554872
G Vps28 VPS28 subunit of ESCRT-I JBrowse link 7 117,684,339 117,688,187 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
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
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
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 15503
    sensory system disease 4666
      skin disease 2495
        Skin Abnormalities 507
          epidermolysis bullosa 49
            Bullous Dystrophy, Hereditary Macular Type 0
            Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase 0
            Epidermolysis Bullosa with Diaphragmatic Hernia 0
            Epidermolysis Bullosa, Lethal Acantholytic 1
            Epidermolysis Bullosa, Nonspecific, Autosomal Recessive 1
            Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 1
            Kindler syndrome 1
            Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 1
            epidermolysis bullosa acquisita 0
            epidermolysis bullosa dystrophica + 4
            epidermolysis bullosa simplex + 34
            junctional epidermolysis bullosa + 8
Path 2
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      nervous system disease 10273
        sensory system disease 4666
          skin disease 2495
            Skin Abnormalities 507
              epidermolysis bullosa 49
                Bullous Dystrophy, Hereditary Macular Type 0
                Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase 0
                Epidermolysis Bullosa with Diaphragmatic Hernia 0
                Epidermolysis Bullosa, Lethal Acantholytic 1
                Epidermolysis Bullosa, Nonspecific, Autosomal Recessive 1
                Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 1
                Kindler syndrome 1
                Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 1
                epidermolysis bullosa acquisita 0
                epidermolysis bullosa dystrophica + 4
                epidermolysis bullosa simplex + 34
                junctional epidermolysis bullosa + 8
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.