Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


Term:DNA ligase IV deficiency
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    Pathological Conditions, Signs and Symptoms 7756
      Pathologic Processes 4936
        Growth Disorders 245
          DNA ligase IV deficiency 1
Path 2
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7782
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7103
        genetic disease 6469
          monogenic disease 3227
            X-linked monogenic disease 839
              combined T cell and B cell immunodeficiency 70
                DNA ligase IV deficiency 1
paths to the root


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