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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
For additional species annotation, visit the Alliance of Genome Resources.


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 Fam189a1 family with sequence similarity 189, member A1 ISO ClinVar Annotator: match by term: Lung damage, immunodeficiency and chromosome breakage syndrome ClinVar PMID:20864041 PMID:27427983 NCBI chr 1:125,552,990...125,967,984
Ensembl chr 1:125,553,439...125,967,756
JBrowse link
G Nsmce3 NSE3 homolog, SMC5-SMC6 complex component ISO ClinVar Annotator: match by term: Lung disease, immunodeficiency, and chromosome breakage syndrome ClinVar
OMIM
PMID:20864041 PMID:27427983 NCBI chr 1:125,663,987...125,665,314 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome 2
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      respiratory system disease 2708
        lower respiratory tract disease 1646
          lung disease 1602
            Lung Injury 249
              Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome 2
paths to the root