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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;   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: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital OMIM
ClinVar		 PMID:22512483 PMID:24088041 PMID:25741868 PMID:25810266 PMID:26633545 More... NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    syndrome 11271
      nephrotic syndrome 173
        Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        Neurologic Manifestations 10421
          sensory system disease 7330
            skin disease 4309
              dermatitis 526
                bullous skin disease 167
                  vesiculobullous skin disease 154
                    epidermolysis bullosa 95
                      junctional epidermolysis bullosa 10
                        Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome 1
paths to the root