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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:Immunodeficiency 96
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Accession:DOID:9000296 term browser browse the term
Definition:An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the LIG1 gene on chromosome 19q13.
Synonyms:exact_synonym: IMD96
 primary_id: OMIM:619774


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Immunodeficiency 96 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lig1 DNA ligase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 96 OMIM
ClinVar		 PMID:1581963 PMID:9536098 PMID:17576681 PMID:19223467 PMID:25741868 More... NCBI chr 1:74,165,688...74,204,400
Ensembl chr 1:74,165,842...74,204,413 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21086
    syndrome 10782
      primary immunodeficiency disease 4112
        Immunodeficiency 96 1
Path 2
Term Annotations click to browse term
  disease 21086
    disease of anatomical entity 18146
      Immune & Inflammatory Diseases 5521
        immune system disease 4735
          primary immunodeficiency disease 4112
            Immunodeficiency 96 1
paths to the root