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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:Generalized Epidermolysis Bullosa Simplex 2D
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Accession:DOID:9000621 term browser browse the term
Definition:This disease is characterized by widespread intraepidermal skin blistering and erosions from birth.
Synonyms:exact_synonym: EBS2D;   autosomal recessive generalized intermediate or severe epidermolysis bullosa simplex 2D
 narrow_synonym: EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE
 primary_id: OMIM:619599


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Generalized Epidermolysis Bullosa Simplex 2D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive OMIM
ClinVar		 PMID:16465624 PMID:20199538 PMID:25741868 PMID:31312705 NCBI chr15:101,615,504...101,621,340
Ensembl chr15:101,615,505...101,621,333 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    sensory system disease 6747
      skin disease 3826
        Genetic Skin Diseases 1847
          epidermolysis bullosa 95
            epidermolysis bullosa simplex 81
              epidermolysis bullosa simplex generalized type 14
                Generalized Epidermolysis Bullosa Simplex 2D 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        Neurologic Manifestations 9790
          sensory system disease 6747
            skin disease 3826
              dermatitis 484
                bullous skin disease 168
                  vesiculobullous skin disease 154
                    epidermolysis bullosa 95
                      epidermolysis bullosa simplex 81
                        epidermolysis bullosa simplex generalized type 14
                          Generalized Epidermolysis Bullosa Simplex 2D 1
paths to the root