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Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with BP230 Deficiency - Ontology Report - Rat Genome Database

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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 3, Localized or Generalized Intermediate, with BP230 Deficiency
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Accession:DOID:9001248 term browser browse the term
Synonyms:exact_synonym: EBS3
 broad_synonym: DST-RELATED CONDITION
 related_synonym: EBSB2;   epidermolysis bullosa simplex, autosomal recessive 2
 primary_id: MIM:615425

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Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with BP230 Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dst dystonin ISO ClinVar Annotator: match by term: DST-related condition | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive 2 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:20164846 PMID:22113475 PMID:22522446 More... NCBI chr 9:36,135,657...36,529,617
Ensembl chr 9:36,135,284...36,529,615 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    sensory system disease 7373
      skin disease 4308
        Skin Abnormalities 1325
          epidermolysis bullosa 96
            epidermolysis bullosa simplex 81
              Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with BP230 Deficiency 1
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      nervous system disease 14362
        Neurologic Manifestations 10461
          sensory system disease 7373
            skin disease 4308
              dermatitis 528
                bullous skin disease 168
                  vesiculobullous skin disease 155
                    epidermolysis bullosa 96
                      epidermolysis bullosa simplex 81
                        Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with BP230 Deficiency 1
paths to the root