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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.


show annotations for term's descendants           Sort by:
 
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 OMIM:131950
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1
OMIM
ClinVar
PMID:11851880, PMID:18414213, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      skin disease 2765
        Skin Abnormalities 659
          epidermolysis bullosa 57
            epidermolysis bullosa simplex 42
              epidermolysis bullosa simplex Ogna type 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          skin disease 2765
            Skin Abnormalities 659
              epidermolysis bullosa 57
                epidermolysis bullosa simplex 42
                  epidermolysis bullosa simplex Ogna type 1
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.