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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:Junctional Epidermolysis Bullosa 2B, Severe
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Accession:DOID:9005030 term browser browse the term
Synonyms:exact_synonym: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE;   JEB2B;   Junctional Epidermolysis Bullosa 2B, Generalized Severe;   Junctional Epidermolysis Bullosa 2B, Herlitz Type;   severe junctional epidermolysis bullosa 2B
 primary_id: OMIM:619784
For additional species annotation, visit the Alliance of Genome Resources.



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Junctional Epidermolysis Bullosa 2B, Severe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 2B, severe OMIM
ClinVar
PMID:7633458 PMID:8530087 PMID:8586427 PMID:8618022 PMID:8824879 More... NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    sensory system disease 6388
      skin disease 3771
        Skin Abnormalities 1054
          epidermolysis bullosa 80
            junctional epidermolysis bullosa 9
              junctional epidermolysis bullosa Herlitz type 4
                Junctional Epidermolysis Bullosa 2B, Severe 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        sensory system disease 6388
          skin disease 3771
            dermatitis 461
              bullous skin disease 150
                vesiculobullous skin disease 137
                  epidermolysis bullosa 80
                    junctional epidermolysis bullosa 9
                      junctional epidermolysis bullosa Herlitz type 4
                        Junctional Epidermolysis Bullosa 2B, Severe 1
paths to the root