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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:epidermolysis bullosa simplex generalized type
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Accession:DOID:0080511 term browser browse the term
Definition:An epidermolysis bullosa simplex that is characterized by widespread blisters that appear at birth or in early infancy. (DO)
Synonyms:exact_synonym: Generalized EBS;   epidermolysis bullosa simplex Koebner type;   generalized epidermolysis bullosa simplex;   generalized epidermolysis bullosa simplex with severe palmoplantar keratosis


show annotations for term's descendants           Sort by:
epidermolysis bullosa simplex generalized type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLHL24 kelch like family member 24 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type ClinVar PMID:25741868 PMID:27798626 PMID:27889062 PMID:28492532 PMID:29779254 More... NCBI chr 3:180,669,767...180,731,186
Ensembl chr 3:188,839,457...188,885,385 		JBrowse link
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type | ClinVar Annotator: match by term: Generalized EBS ClinVar PMID:7520042 PMID:8807337 PMID:20199538 PMID:25741868 NCBI chr12:36,243,221...36,249,573
Ensembl chr12:37,021,432...37,025,105 		JBrowse link
G LOC100975309 keratin, type I cytoskeletal 14 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type | ClinVar Annotator: match by term: Generalized EBS ClinVar PMID:1703046 PMID:1717157 PMID:1720261 PMID:2365356 PMID:7682883 More... NCBI chr17:15,730,066...15,734,665
Ensembl chr17:15,948,596...15,953,191 		JBrowse link
Epidermolysis Bullosa Simplex 5D with Nail Dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP10 Rho GTPase activating protein 10 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 4:140,054,130...140,412,646
Ensembl chr 4:151,726,549...152,066,977 		JBrowse link
G BCLAF1 BCL2 associated transcription factor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 6:134,023,195...134,054,507
Ensembl chr 6:138,115,451...138,137,108 		JBrowse link
G DCUN1D2 defective in cullin neddylation 1 domain containing 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr13:94,601,936...94,635,866
Ensembl chr13:113,660,823...113,693,689 		JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr13:19,900,324...20,103,303
Ensembl chr13:38,490,750...38,687,048 		JBrowse link
G GPR33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr14:12,259,566...12,264,971
Ensembl chr14:30,456,788...30,457,789 		JBrowse link
G HRNR hornerin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 1:127,570,653...127,583,285 JBrowse link
G IDS iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr  X:138,493,117...138,520,017
Ensembl chr  X:148,912,475...148,946,441 		JBrowse link
G PLEC plectin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy OMIM
ClinVar		 PMID:9536098 PMID:11851880 PMID:15206692 PMID:15659326 PMID:15810881 More... NCBI chr 8:140,681,252...140,742,753
Ensembl chr 8:143,674,696...143,712,433 		JBrowse link
G RP1L1 RP1 like 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 8:8,586,410...8,605,275 JBrowse link
G TMEM249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 8:141,115,959...141,119,290
Ensembl chr 8:144,106,167...144,108,616 		JBrowse link
epidermolysis bullosa simplex Dowling-Meara type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex Dowling-Meara type ClinVar PMID:7520042 PMID:8807337 PMID:25741868 NCBI chr12:36,243,221...36,249,573
Ensembl chr12:37,021,432...37,025,105 		JBrowse link
G LOC100975309 keratin, type I cytoskeletal 14 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex Dowling-Meara type ClinVar PMID:1717157 PMID:10583131 PMID:10730767 PMID:11331879 PMID:16098032 More... NCBI chr17:15,730,066...15,734,665
Ensembl chr17:15,948,596...15,953,191 		JBrowse link
Generalized Epidermolysis Bullosa Simplex 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLHL24 kelch like family member 24 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type ClinVar PMID:25741868 PMID:27798626 PMID:27889062 PMID:28492532 PMID:29779254 More... NCBI chr 3:180,669,767...180,731,186
Ensembl chr 3:188,839,457...188,885,385 		JBrowse link
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type ClinVar PMID:7520042 PMID:8807337 PMID:20199538 PMID:25741868 NCBI chr12:36,243,221...36,249,573
Ensembl chr12:37,021,432...37,025,105 		JBrowse link
G LOC100975309 keratin, type I cytoskeletal 14 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type OMIM
ClinVar		 PMID:1703046 PMID:1717157 PMID:1720261 PMID:2365356 PMID:7682883 More... NCBI chr17:15,730,066...15,734,665
Ensembl chr17:15,948,596...15,953,191 		JBrowse link
Generalized Epidermolysis Bullosa Simplex 1D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DST dystonin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:56,014,832...56,513,346
Ensembl chr 6:57,646,402...58,039,636 		JBrowse link
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE ClinVar PMID:7520042 PMID:8807337 PMID:25741868 NCBI chr12:36,243,221...36,249,573
Ensembl chr12:37,021,432...37,025,105 		JBrowse link
G LOC100975309 keratin, type I cytoskeletal 14 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive OMIM
ClinVar		 PMID:7525407 PMID:7525408 PMID:7526933 PMID:8875963 PMID:10971341 More... NCBI chr17:15,730,066...15,734,665
Ensembl chr17:15,948,596...15,953,191 		JBrowse link
Generalized Epidermolysis Bullosa Simplex 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2B, generalized intermediate OMIM
ClinVar		 PMID:1718160 PMID:7534039 PMID:7686424 PMID:9740251 PMID:11407988 More... NCBI chr12:36,243,221...36,249,573
Ensembl chr12:37,021,432...37,025,105 		JBrowse link
Generalized Epidermolysis Bullosa Simplex 2D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive OMIM
ClinVar		 PMID:16465624 PMID:20199538 PMID:25741868 PMID:31312705 NCBI chr12:36,243,221...36,249,573
Ensembl chr12:37,021,432...37,025,105 		JBrowse link
Generalized Epidermolysis Bullosa Simplex 6 with Scarring and Hair Loss term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLHL24 kelch like family member 24 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss OMIM
ClinVar		 PMID:25741868 PMID:27798626 PMID:27889062 PMID:28492532 PMID:29779254 More... NCBI chr 3:180,669,767...180,731,186
Ensembl chr 3:188,839,457...188,885,385 		JBrowse link
Generalized Severe Epidermolysis Bullosa Simplex 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe ClinVar PMID:7520042 PMID:8807337 PMID:9036937 PMID:10730767 PMID:16098032 More... NCBI chr12:36,243,221...36,249,573
Ensembl chr12:37,021,432...37,025,105 		JBrowse link
G LOC100975309 keratin, type I cytoskeletal 14 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe OMIM
ClinVar		 PMID:1703046 PMID:1717157 PMID:1720261 PMID:9804355 PMID:10583131 More... NCBI chr17:15,730,066...15,734,665
Ensembl chr17:15,948,596...15,953,191 		JBrowse link
Generalized Severe Epidermolysis Bullosa Simplex 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2A, generalized severe OMIM
ClinVar		 PMID:1372711 PMID:8757772 PMID:9036937 PMID:10234505 PMID:10383750 More... NCBI chr12:36,243,221...36,249,573
Ensembl chr12:37,021,432...37,025,105 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15697
    sensory system disease 6706
      skin disease 3857
        Genetic Skin Diseases 1837
          epidermolysis bullosa 94
            epidermolysis bullosa simplex 82
              epidermolysis bullosa simplex generalized type 14
                Epidermolysis Bullosa Simplex 5D with Nail Dystrophy 10
                Generalized Epidermolysis Bullosa Simplex 1B 3
                Generalized Epidermolysis Bullosa Simplex 1D 3
                Generalized Epidermolysis Bullosa Simplex 2B 1
                Generalized Epidermolysis Bullosa Simplex 2D 1
                Generalized Epidermolysis Bullosa Simplex 6 with Scarring and Hair Loss 1
                epidermolysis bullosa simplex Dowling-Meara type + 2
Path 2
Term Annotations click to browse term
  disease 15697
    disease of anatomical entity 15311
      nervous system disease 13350
        Neurologic Manifestations 9706
          sensory system disease 6706
            skin disease 3857
              dermatitis 474
                bullous skin disease 165
                  vesiculobullous skin disease 153
                    epidermolysis bullosa 94
                      epidermolysis bullosa simplex 82
                        epidermolysis bullosa simplex generalized type 14
                          Epidermolysis Bullosa Simplex 5D with Nail Dystrophy 10
                          Generalized Epidermolysis Bullosa Simplex 1B 3
                          Generalized Epidermolysis Bullosa Simplex 1D 3
                          Generalized Epidermolysis Bullosa Simplex 2B 1
                          Generalized Epidermolysis Bullosa Simplex 2D 1
                          Generalized Epidermolysis Bullosa Simplex 6 with Scarring and Hair Loss 1
                          epidermolysis bullosa simplex Dowling-Meara type + 2
paths to the root