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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:junctional epidermolysis bullosa
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Accession:DOID:3209 term browser browse the term
Definition:An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin. (DO)
Synonyms:exact_synonym: Herlitz disease;   Herlitz's disease;   Herlitzs disease;   congenital junctional epidermolysis bullosa;   epidermolysis bullosa junctionalis;   epidermolysis bullosa progressiva
 narrow_synonym: epidermolysis bullosa junctionalis, LAMA3-related
 primary_id: MESH:D016109
 alt_id: OMIA:001677
 xref: GARD:2152;   NCI:C90598;   OMIM:PS226650
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
junctional epidermolysis bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col17a1 collagen type XVII alpha 1 chain susceptibility ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa RGD
ClinVar		 PMID:7550320 PMID:9199555 PMID:9740252 PMID:10398261 PMID:10577906 More... RGD:1600884 NCBI chrNW_004936600:2,084,854...2,133,028
Ensembl chrNW_004936600:2,091,150...2,132,173 		JBrowse link
G Itga6 integrin subunit alpha 6 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa ClinVar PMID:21357940 PMID:25741868 NCBI chrNW_004936509:2,508,446...2,587,643
Ensembl chrNW_004936509:2,508,375...2,587,669 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7545057 NCBI chrNW_004936594:912,302...944,819
Ensembl chrNW_004936594:912,291...946,012 		JBrowse link
G Lamb3 laminin subunit beta 3 susceptibility ISO DNA:nonsense mutation
ClinVar Annotator: match by term: Junctional epidermolysis bullosa		 RGD
ClinVar		 PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... RGD:1600209 NCBI chrNW_004936557:3,429,488...3,487,995
Ensembl chrNW_004936557:3,450,247...3,487,954 		JBrowse link
G Lamc2 laminin subunit gamma 2 susceptibility ISO DNA:splice-site mutation, deletion-insertion
ClinVar Annotator: match by term: Junctional epidermolysis bullosa		 RGD
ClinVar		 PMID:8012393 PMID:9856849 PMID:11231327 PMID:11810295 PMID:11907499 More... RGD:1600210 NCBI chrNW_004936481:6,588,797...6,647,167
Ensembl chrNW_004936481:6,588,865...6,647,188 		JBrowse link
G LOC101971816 laminin subunit alpha-3 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa ClinVar PMID:10366601 PMID:11810295 PMID:12915477 PMID:15538630 PMID:16473856 More... NCBI chrNW_004936550:3,121,163...3,357,517
Ensembl chrNW_004936550:3,122,089...3,355,319 		JBrowse link
Junctional Epidermolysis Bullosa 1A, Intermediate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamb3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE OMIM
ClinVar		 PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chrNW_004936557:3,429,488...3,487,995
Ensembl chrNW_004936557:3,450,247...3,487,954 		JBrowse link
G LOC101971816 laminin subunit alpha-3 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE ClinVar PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 PMID:17362460 More... NCBI chrNW_004936550:3,121,163...3,357,517
Ensembl chrNW_004936550:3,122,089...3,355,319 		JBrowse link
Junctional Epidermolysis Bullosa 1B, Severe term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamb3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE OMIM
ClinVar		 PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chrNW_004936557:3,429,488...3,487,995
Ensembl chrNW_004936557:3,450,247...3,487,954 		JBrowse link
G Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE ClinVar PMID:11907499 PMID:16199547 PMID:16473856 PMID:25741868 PMID:28492532 NCBI chrNW_004936481:6,588,797...6,647,167
Ensembl chrNW_004936481:6,588,865...6,647,188 		JBrowse link
G LOC101971816 laminin subunit alpha-3 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE ClinVar PMID:9536098 PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 More... NCBI chrNW_004936550:3,121,163...3,357,517
Ensembl chrNW_004936550:3,122,089...3,355,319 		JBrowse link
Junctional Epidermolysis Bullosa 2A, Intermediate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101971816 laminin subunit alpha-3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 2A, intermediate OMIM
ClinVar		 PMID:11810295 PMID:17362460 PMID:25741868 NCBI chrNW_004936550:3,121,163...3,357,517
Ensembl chrNW_004936550:3,122,089...3,355,319 		JBrowse link
Junctional Epidermolysis Bullosa 2B, Severe term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101971816 laminin subunit alpha-3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 2B, severe OMIM
ClinVar		 PMID:7633458 PMID:8530087 PMID:8586427 PMID:8618022 PMID:8824879 More... NCBI chrNW_004936550:3,121,163...3,357,517
Ensembl chrNW_004936550:3,122,089...3,355,319 		JBrowse link
Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101971816 laminin subunit alpha-3 ISO ClinVar Annotator: match by term: Laryngo-onycho-cutaneous syndrome OMIM
ClinVar		 PMID:7633458 PMID:8530087 PMID:8618022 PMID:8824879 PMID:8983017 More... NCBI chrNW_004936550:3,121,163...3,357,517
Ensembl chrNW_004936550:3,122,089...3,355,319 		JBrowse link
Junctional Epidermolysis Bullosa 3A, Intermediate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3A, intermediate OMIM
ClinVar		 PMID:11564184 PMID:11810295 PMID:11907499 PMID:15538630 PMID:16199547 More... NCBI chrNW_004936481:6,588,797...6,647,167
Ensembl chrNW_004936481:6,588,865...6,647,188 		JBrowse link
Junctional Epidermolysis Bullosa 3B, Severe term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3B, severe OMIM
ClinVar		 PMID:7849725 PMID:8012114 PMID:8012393 PMID:8012394 PMID:8824879 More... NCBI chrNW_004936481:6,588,797...6,647,167
Ensembl chrNW_004936481:6,588,865...6,647,188 		JBrowse link
Junctional Epidermolysis Bullosa 4, Intermediate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: COL17A1-related condition | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate OMIM
ClinVar		 PMID:7092249 PMID:7550320 PMID:8618019 PMID:9012408 PMID:9077475 More... NCBI chrNW_004936600:2,084,854...2,133,028
Ensembl chrNW_004936600:2,091,150...2,132,173 		JBrowse link
Junctional Epidermolysis Bullosa 5A, Intermediate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 5A, intermediate ClinVar PMID:9536098 PMID:9546354 PMID:9892956 PMID:11328943 PMID:12485428 More... NCBI chrNW_004936594:944,936...950,537
Ensembl chrNW_004936594:944,944...949,838 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 5A, intermediate OMIM
ClinVar		 PMID:9536098 PMID:9546354 PMID:9892956 PMID:10792571 PMID:11328943 More... NCBI chrNW_004936594:912,302...944,819
Ensembl chrNW_004936594:912,291...946,012 		JBrowse link
Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 7, WITH INTERSTITIAL LUNG DISEASE AND NEPHROTIC SYNDROME | ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital OMIM
ClinVar		 PMID:22512483 PMID:24088041 PMID:25741868 PMID:25810266 PMID:26633545 More... NCBI chrNW_004936490:11,553,904...11,583,387
Ensembl chrNW_004936490:11,553,861...11,583,380 		JBrowse link
junctional epidermolysis bullosa Herlitz type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga6 integrin subunit alpha 6 ISO OMIM:226700 MouseDO NCBI chrNW_004936509:2,508,446...2,587,643
Ensembl chrNW_004936509:2,508,375...2,587,669 		JBrowse link
G Lamb3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosa | ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz ClinVar PMID:7550237 PMID:7698759 PMID:7706760 PMID:8362910 PMID:8541876 More... NCBI chrNW_004936557:3,429,488...3,487,995
Ensembl chrNW_004936557:3,450,247...3,487,954 		JBrowse link
G Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosa | ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz ClinVar PMID:7849725 PMID:8012114 PMID:8012393 PMID:8012394 PMID:8824879 More... NCBI chrNW_004936481:6,588,797...6,647,167
Ensembl chrNW_004936481:6,588,865...6,647,188 		JBrowse link
G LOC101971816 laminin subunit alpha-3 ISO ClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosa | ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz ClinVar PMID:7633458 PMID:8530087 PMID:8618022 PMID:8824879 PMID:8983017 More... NCBI chrNW_004936550:3,121,163...3,357,517
Ensembl chrNW_004936550:3,122,089...3,355,319 		JBrowse link
junctional epidermolysis bullosa non-Herlitz type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type ClinVar PMID:9077475 PMID:9204958 PMID:9536098 PMID:9583744 PMID:10636730 More... NCBI chrNW_004936600:2,084,854...2,133,028
Ensembl chrNW_004936600:2,091,150...2,132,173 		JBrowse link
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936594:944,936...950,537
Ensembl chrNW_004936594:944,944...949,838 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936594:912,302...944,819
Ensembl chrNW_004936594:912,291...946,012 		JBrowse link
G Lamb3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL | ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis, disentis type | ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type		 ClinVar PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chrNW_004936557:3,429,488...3,487,995
Ensembl chrNW_004936557:3,450,247...3,487,954 		JBrowse link
G Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type ClinVar PMID:11564184 PMID:25741868 PMID:27375110 PMID:28492532 NCBI chrNW_004936481:6,588,797...6,647,167
Ensembl chrNW_004936481:6,588,865...6,647,188 		JBrowse link
G LOC101971816 laminin subunit alpha-3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis, disentis type | ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type ClinVar PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 PMID:17362460 More... NCBI chrNW_004936550:3,121,163...3,357,517
Ensembl chrNW_004936550:3,122,089...3,355,319 		JBrowse link
junctional epidermolysis bullosa with pyloric atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia
ClinVar Annotator: match by term: ITGB4-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia		 ClinVar PMID:9536098 PMID:9792864 PMID:9892956 PMID:10484780 PMID:11328943 More... NCBI chrNW_004936594:944,936...950,537
Ensembl chrNW_004936594:944,944...949,838 		JBrowse link
G Itga6 integrin subunit alpha 6 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 6, with pyloric atresia | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia OMIM
ClinVar		 PMID:9158140 PMID:9185503 PMID:9804362 PMID:14675179 PMID:23496044 More... NCBI chrNW_004936509:2,508,446...2,587,643
Ensembl chrNW_004936509:2,508,375...2,587,669 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: ITGB4-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia OMIM
ClinVar		 PMID:6177243 PMID:7545057 PMID:9536098 PMID:9546354 PMID:9674902 More... NCBI chrNW_004936594:912,302...944,819
Ensembl chrNW_004936594:912,291...946,012 		JBrowse link
G LOC101957084 plectin ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936470:8,194,124...8,252,139
Ensembl chrNW_004936470:8,216,205...8,250,978 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6281
      skin disease 3576
        Skin Abnormalities 1226
          epidermolysis bullosa 87
            junctional epidermolysis bullosa 9
              Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous 1
              Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome 1
              Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation 0
              junctional epidermolysis bullosa Herlitz type + 4
              junctional epidermolysis bullosa non-Herlitz type + 6
              junctional epidermolysis bullosa with pyloric atresia 4
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        Neurologic Manifestations 9046
          sensory system disease 6281
            skin disease 3576
              dermatitis 429
                bullous skin disease 147
                  vesiculobullous skin disease 136
                    epidermolysis bullosa 87
                      junctional epidermolysis bullosa 9
                        Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous 1
                        Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome 1
                        Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation 0
                        junctional epidermolysis bullosa Herlitz type + 4
                        junctional epidermolysis bullosa non-Herlitz type + 6
                        junctional epidermolysis bullosa with pyloric atresia 4
paths to the root