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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
 alt_id: OMIM:606593;   RDO:0013566
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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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  disease 15639
    Pathological Conditions, Signs and Symptoms 8061
      Pathologic Processes 5113
        Growth Disorders 249
          DNA ligase IV deficiency 1
Path 2
Term Annotations click to browse term
  disease 15639
    Developmental Diseases 8774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7556
        genetic disease 7052
          monogenic disease 4684
            autosomal genetic disease 3642
              autosomal recessive disease 2078
                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.