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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 LCK 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
 primary_id: OMIM:615758
 xref: ORDO:280142
For additional species annotation, visit the Alliance of Genome Resources.


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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: Immunodeficiency 22 ClinVar
OMIM
PMID:22985903, PMID:25741868, PMID:28492532 NCBI chr 5:147,750,976...147,779,627
Ensembl chr 5:147,750,973...147,761,983
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        Infant, Newborn, Diseases 547
          severe combined immunodeficiency 91
            immunodeficiency 22 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                immunodeficiency 22 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.