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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 3B, Severe
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Accession:DOID:9005152 term browser browse the term
Synonyms:exact_synonym: JEB3B;   Junctional Epidermolysis Bullosa 3B, Generalized Severe;   Junctional Epidermolysis Bullosa 3B, Herlitz Type;   severe junctional epidermolysis bullosa 3B
 primary_id: OMIM:619786
For additional species annotation, visit the Alliance of Genome Resources.



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Junctional Epidermolysis Bullosa 3B, Severe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3B, severe OMIM
ClinVar
PMID:7849725 PMID:8012114 PMID:8012393 PMID:8012394 PMID:8824879 More... NCBI chr13:65,284,664...65,344,200
Ensembl chr13:65,284,664...65,344,200
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    sensory system disease 6393
      skin disease 3775
        Skin Abnormalities 1066
          epidermolysis bullosa 80
            junctional epidermolysis bullosa 9
              junctional epidermolysis bullosa Herlitz type 4
                Junctional Epidermolysis Bullosa 3B, Severe 1
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      nervous system disease 13182
        sensory system disease 6393
          skin disease 3775
            dermatitis 462
              bullous skin disease 150
                vesiculobullous skin disease 137
                  epidermolysis bullosa 80
                    junctional epidermolysis bullosa 9
                      junctional epidermolysis bullosa Herlitz type 4
                        Junctional Epidermolysis Bullosa 3B, Severe 1
paths to the root