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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 Ogna type
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Accession:DOID:0060736 term browser browse the term
Definition:An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24. (DO)
Synonyms:exact_synonym: EBS-O;   EBS5A;   EBSOG;   Ebs-Og;   Epidermolysis bullosa simplex 1;   epidermolysis bullosa simplex 5A, Ogna type
 primary_id: MESH:C535962
 alt_id: MIM:131950
 xref: ICD10CM:Q81.0;   ORDO:79401


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epidermolysis bullosa simplex Ogna type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plec plectin ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:131950
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type		 OMIM
CTD
MouseDO
ClinVar		 PMID:9536098 PMID:11851880 PMID:15206692 PMID:15810881 PMID:17576681 More... NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    sensory system disease 7336
      skin disease 4312
        Genetic Skin Diseases 1881
          epidermolysis bullosa 95
            epidermolysis bullosa simplex 81
              epidermolysis bullosa simplex Ogna type 1
Path 2
Term Annotations click to browse term
  disease 19106
    disease of anatomical entity 18445
      nervous system disease 14349
        Neurologic Manifestations 10433
          sensory system disease 7336
            skin disease 4312
              dermatitis 526
                bullous skin disease 167
                  vesiculobullous skin disease 154
                    epidermolysis bullosa 95
                      epidermolysis bullosa simplex 81
                        epidermolysis bullosa simplex Ogna type 1
paths to the root