ONTOLOGY REPORT - ANNOTATIONS


Term:DNA ligase IV deficiency
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Accession:DOID:0060021 term browser browse the term
Definition:A combined T cell and B cell immunodeficiency that has material basis in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay. (DO)
Synonyms:exact_synonym: DNA Ligase IV Syndrome;   LIG4 Syndrome;   LIG4-RELATED DISORDER;   LIG4-RELATED DISORDERS
 primary_id: MESH:C564694;   RDO:0013566
 alt_id: OMIM:606593
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DNA ligase IV deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lig4 DNA ligase 4 JBrowse link 16 85,331,771 85,339,496 RGD:7240710
RGD:8554872
RGD:8694074
RGD:13204707
RGD:13204717

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Path 1
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  disease 14823
    syndrome 4218
      primary immunodeficiency disease 930
        DNA ligase IV deficiency 1
Path 2
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  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          monogenic disease 2859
            X-linked monogenic disease 490
              combined T cell and B cell immunodeficiency 67
                DNA ligase IV deficiency 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.