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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:Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital
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Accession:DOID:9006333 term browser browse the term
Synonyms:exact_synonym: ILNEB
 primary_id: OMIM:614748;   RDO:9000491
For additional species annotation, visit the Alliance of Genome Resources.


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Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 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 OMIM:614748
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 NCBI chr10:82,855,841...82,887,755
Ensembl chr10:82,855,613...82,887,497
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    syndrome 7057
      nephrotic syndrome 120
        Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        sensory system disease 5248
          skin disease 2715
            dermatitis 420
              bullous skin disease 118
                vesiculobullous skin disease 104
                  epidermolysis bullosa 58
                    Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 1
paths to the root