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immunodeficiency 64 - Ontology Report - Rat Genome Database

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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 64
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Accession:DOID:0111980 term browser browse the term
Definition:A T cell, B cell, and NK cell deficiency characterized by variably decreased numbers of T cells, lesser deficiencies of B and NK cells, decreased phosphorylation of the extracellular-signal-regulated serine kinase ERK in T and B cells, and onset in early childhood of recurrent bacterial, viral, and fungal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RASGRP1 gene on chromosome 15q14. (DO)
Synonyms:exact_synonym: IMD64;   RASGRP1-RELATED CONDITION;   immunodeficiency-64 with lymphoproliferation
 primary_id: MIM:618534

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immunodeficiency 64 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rasgrp1 RAS guanyl releasing protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 64 | ClinVar Annotator: match by term: RASGRP1-related condition OMIM
ClinVar		 PMID:25741868 PMID:27776107 PMID:28492532 PMID:28822832 PMID:29155103 More... NCBI chr 3:124,624,039...124,684,079
Ensembl chr 3:104,170,013...104,230,056 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    syndrome 11403
      primary immunodeficiency disease 4478
        combined immunodeficiency 955
          T cell, B cell, and NK cell deficiency 5
            immunodeficiency 64 1
Path 2
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10964
            autosomal genetic disease 10452
              autosomal recessive disease 7136
                immunodeficiency 64 1
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