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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 localized type
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Accession:DOID:0080510 term browser browse the term
Definition:An epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet. (DO)
Synonyms:exact_synonym: Acral Form EBS;   Epidermolysis Bullosa Simplex, Localized;   Epidermolysis Bullosa of Hands and Feet;   Weber Cockayne Syndrome;   epidermolysis bullosa simplex Weber-Cockayne type
 primary_id: OMIM:131800
For additional species annotation, visit the Alliance of Genome Resources.



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epidermolysis bullosa simplex localized type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex ClinVar PMID:25741868 NCBI chr10:101,243,146...101,247,323
Ensembl chr10:101,235,994...101,247,337
JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex OMIM
ClinVar
PMID:12485428 PMID:25741868 NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012
JBrowse link
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex OMIM
ClinVar
PMID:7506606 PMID:7561171 PMID:9284105 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: Localized epidermolysis bullosa simplex OMIM
ClinVar
PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:11973334 More... NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    sensory system disease 5664
      skin disease 2978
        Skin Abnormalities 768
          epidermolysis bullosa 58
            epidermolysis bullosa simplex 43
              epidermolysis bullosa simplex localized type 4
Path 2
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      nervous system disease 12140
        sensory system disease 5664
          skin disease 2978
            dermatitis 425
              bullous skin disease 118
                vesiculobullous skin disease 105
                  epidermolysis bullosa 58
                    epidermolysis bullosa simplex 43
                      epidermolysis bullosa simplex localized type 4
paths to the root