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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 7, with Interstitial Lung Disease and Nephrotic Syndrome
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Accession:DOID:9006333 term browser browse the term
Definition:An autosomal recessive multiorgan disorder that includes congenital interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa. Caused by homozygous mutation in the ITGA3 gene on chromosome 17q21.
Synonyms:exact_synonym: ILNEB;   ITGA3-RELATED CONDITION;   JEB7;   interstitial lung disease, nephrotic syndrome, and congenital epidermolysis bullosa
 primary_id: MIM:614748



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Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | ClinVar Annotator: match by term: ITGA3-related condition | ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital OMIM
ClinVar
PMID:16199547 PMID:22512483 PMID:24088041 PMID:25741868 PMID:25810266 More... NCBI chr10:79,990,160...80,022,206 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11370
      nephrotic syndrome 174
        Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        Neurologic Manifestations 10448
          sensory system disease 7376
            skin disease 4320
              dermatitis 529
                bullous skin disease 168
                  vesiculobullous skin disease 155
                    epidermolysis bullosa 96
                      junctional epidermolysis bullosa 11
                        Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome 1
paths to the root