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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:Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome
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Accession:DOID:9001610 term browser browse the term
Synonyms:exact_synonym: LICS;   lung disease, immunodeficiency, and chromosome breakage syndrome
 primary_id: OMIM:617241



show annotations for term's descendants           Sort by:
Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Entrep2 endosomal transmembrane epsin interactor 2 ISO ClinVar Annotator: match by term: Lung disease, immunodeficiency, and chromosome breakage syndrome ClinVar PMID:20864041 PMID:25741868 PMID:27427983 PMID:28492532 NCBI chr 1:118,288,365...118,700,514
Ensembl chr 1:118,288,379...118,700,671
JBrowse link
G Nsmce3 NSE3 homolog, SMC5-SMC6 complex component ISO ClinVar Annotator: match by term: Lung disease, immunodeficiency, and chromosome breakage syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:20864041 PMID:25741868 PMID:27427983 PMID:28492532 NCBI chr 1:118,401,302...118,402,629 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21121
    syndrome 10792
      Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome 2
Path 2
Term Annotations click to browse term
  disease 21121
    disease of anatomical entity 18204
      respiratory system disease 3605
        lower respiratory tract disease 2295
          lung disease 2259
            Lung Injury 293
              Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome 2
paths to the root