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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 1B, Severe
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Accession:DOID:9001145 term browser browse the term
Synonyms:exact_synonym: JEB1B
 primary_id: OMIM:226700
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Junctional Epidermolysis Bullosa 1B, 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 1B, SEVERE ClinVar PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 PMID:17362460 More... NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353
JBrowse link
G Lamb3 laminin subunit beta 3 ISO OMIM NCBI chr13:104,833,810...104,875,405
Ensembl chr13:104,833,873...104,875,405
JBrowse link

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 1B, Severe 2
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 1B, Severe 2
paths to the root