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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 99
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Accession:DOID:0061069 term browser browse the term
Definition:A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary infections in early childhood and that has_material_basis_in homozygous mutation in the CTNNBL1 gene on chromosome 20q11. (DO)
Synonyms:exact_synonym: IMD99;   immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
 alt_id: DOID:9003255
 xref: MIM:619846;   MONDO:0030728


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immunodeficiency 99 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnbl1 catenin, beta like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias OMIM
ClinVar		 PMID:32484799 NCBI chr 3:146,387,940...146,548,987
Ensembl chr 3:166,807,858...166,968,931 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      primary immunodeficiency disease 4502
        combined immunodeficiency 950
          combined T cell and B cell immunodeficiency 342
            immunodeficiency 99 1
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 99 1
paths to the root