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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.


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 NCBI chr11:84,613,101...84,643,674
Ensembl chr11:84,615,760...84,633,504
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 chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
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 Annotator: match by term: Epidermolysis bullosa simplex, generalized, with severe palmoplantar keratosis
ClinVar
OMIM
PMID:1718160, PMID:7520042, PMID:7534039, PMID:7686424, PMID:8807337, PMID:9740251, PMID:11407988, PMID:11407989, PMID:25741868, PMID:30311386 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
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 chr11:84,613,101...84,643,674
Ensembl chr11:84,615,760...84,633,504
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      skin disease 2758
        Skin Abnormalities 658
          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 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            Skin Abnormalities 658
              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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.