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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 22
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Accession:DOID:0111937 term browser browse the term
Definition:A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2. (DO)
Synonyms:exact_synonym: IMD22;   SCID due to LCK deficiency;   SCID due to lymphocyte-specific protein tyrosine kinase deficiency;   severe combined immunodeficiency due to LCK deficiency;   severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency
 xref: MONDO:0014334;   NCI:C176808;   OMIM:615758;   ORDO:280142

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immunodeficiency 22 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lck LCK proto-oncogene, Src family tyrosine kinase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to LCK deficiency OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22985903 PMID:25741868 More... NCBI chrNW_004955452:10,608,317...10,632,310
Ensembl chrNW_004955452:10,608,318...10,632,310 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14194
    Developmental Disease 12384
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11615
        Infant, Newborn, Diseases 1095
          severe combined immunodeficiency 434
            immunodeficiency 22 1
Path 2
Term Annotations click to browse term
  disease 14194
    Developmental Disease 12384
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11615
        genetic disease 11307
          monogenic disease 9485
            autosomal genetic disease 8806
              autosomal recessive disease 6205
                immunodeficiency 22 1
paths to the root