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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;   EBSOG;   Ebs-Og;   Epidermolysis bullosa simplex 1
 primary_id: MESH:C535962
 alt_id: OMIM:131950;   RDO:0001352
 xref: ICD10CM:Q81.0;   ORDO:79401
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1
OMIM
ClinVar
PMID:11851880 PMID:15810881 PMID:18414213 PMID:20016501 PMID:22854623 More... NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    sensory system disease 5658
      skin disease 2974
        Skin Abnormalities 768
          epidermolysis bullosa 58
            epidermolysis bullosa simplex 43
              epidermolysis bullosa simplex Ogna type 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        sensory system disease 5658
          skin disease 2974
            dermatitis 425
              bullous skin disease 118
                vesiculobullous skin disease 105
                  epidermolysis bullosa 58
                    epidermolysis bullosa simplex 43
                      epidermolysis bullosa simplex Ogna type 1
paths to the root