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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: Epidermolysis Bullosa Simplex Kobner;   Epidermolysis Bullosa Simplex, Generalized;   Epidermolysis Bullosa Simplex, Generalized, with severe palmoplantar keratosis;   Epidermolysis Bullosa Simplex, Koebner Type;   Generalized EBS;   Generalized EBSs
 primary_id: OMIM:131900
For additional species annotation, visit the Alliance of Genome Resources.


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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 NCBI chr11:80,843,621...80,877,693
Ensembl chr11:80,846,755...80,877,636
JBrowse link
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type ClinVar
OMIM
PMID:1703046 PMID:1720261 PMID:7682883 NCBI chr10:85,137,932...85,141,990
Ensembl chr10:85,066,802...85,171,799
JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, generalized, with severe palmoplantar keratosis
ClinVar
OMIM
PMID:1718160 PMID:7520042 PMID:7534039 PMID:7686424 PMID:8807337 More... NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850
JBrowse link
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, 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, generalized, with scarring and hair loss ClinVar
OMIM
PMID:25741868 PMID:27798626 PMID:27889062 NCBI chr11:80,843,621...80,877,693
Ensembl chr11:80,846,755...80,877,636
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    sensory system disease 5611
      skin disease 2954
        Skin Abnormalities 766
          epidermolysis bullosa 57
            epidermolysis bullosa simplex 42
              epidermolysis bullosa simplex generalized type 3
                EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        sensory system disease 5611
          skin disease 2954
            dermatitis 423
              bullous skin disease 117
                vesiculobullous skin disease 104
                  epidermolysis bullosa 57
                    epidermolysis bullosa simplex 42
                      epidermolysis bullosa simplex generalized type 3
                        EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS 1
paths to the root