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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 81
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Accession:DOID:0061052 term browser browse the term
Definition:A primary immunodeficiency disease that is characterized by highly variable phenotype that may include both immunodeficiency with recurrent infections, including bacterial and fungal infections, as well as autoimmune features, including autoimmune hemolytic anemia, pancytopenia, thrombocytopenia, and inflammatory bowel disease and that has_material_basis_in homozygous or compound heterozygous mutation in the SLP76 gene on chromosome 5q33. (DO)
Synonyms:exact_synonym: IMD81
 alt_id: DOID:9008093
 xref: MIM:619374;   MONDO:0030302


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immunodeficiency 81 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10h5orf58 similar to human chromosome 5 open reading frame 58 ISO ClinVar Annotator: match by term: Immunodeficiency 81 ClinVar PMID:25741868 NCBI chr10:18,690,958...18,697,224
Ensembl chr10:19,193,035...19,205,380 		JBrowse link
G Lcp2 lymphocyte cytosolic protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 81 OMIM
ClinVar		 PMID:25741868 PMID:33231617 NCBI chr10:18,642,600...18,689,562
Ensembl chr10:19,146,554...19,193,744 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      primary immunodeficiency disease 4502
        immunodeficiency 81 2
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                immunodeficiency 81 2
paths to the root