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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 Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex OMIM
ClinVar
PMID:12485428 NCBI chr10:104,524,000...104,560,180
Ensembl chr10:104,523,996...104,561,078
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 chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex OMIM
ClinVar
PMID:7520042, PMID:7537780, PMID:7688477, PMID:8807337, PMID:11973334, PMID:12648226, PMID:16098032, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    sensory system disease 5213
      skin disease 2758
        Skin Abnormalities 658
          epidermolysis bullosa 57
            epidermolysis bullosa simplex 42
              epidermolysis bullosa simplex localized type 3
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            Skin Abnormalities 658
              epidermolysis bullosa 57
                epidermolysis bullosa simplex 42
                  epidermolysis bullosa simplex localized type 3
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.