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RGD uses the Human Disease Ontology (DO, 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: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
 xref: NCI:C122657
For additional species annotation, visit the Alliance of Genome Resources.

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DNA ligase IV deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lig4 DNA ligase 4 ISO DNA:missense mutation: :p.Y288C (mouse)
DNA:missense mutation, nonsense mutation: :p.K449Q (c.1345A>C), p.R814* (c.2440C>T) (human)
DNA:missense mutation: :p.R278H (mouse)
ClinVar Annotator: match by term: DNA ligase IV deficiency | ClinVar Annotator: match by term: LIG4-Related Disorders
PMID:10395545 PMID:11349135 PMID:11779494 PMID:12471202 PMID:16088910 More... RGD:8694074, RGD:13204707, RGD:13204717 NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    Pathological Conditions, Signs and Symptoms 11356
      Pathologic Processes 7814
        Growth Disorders 916
          DNA ligase IV deficiency 1
Path 2
Term Annotations click to browse term
  disease 18215
    Developmental Disease 13068
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11804
        genetic disease 11315
          monogenic disease 8884
            autosomal genetic disease 7927
              autosomal recessive disease 4932
                DNA ligase IV deficiency 1
paths to the root