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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 ClinVar Annotator: match by OMIM:606593
DNA:missense mutation: :p.Y288C (mouse)
ClinVar Annotator: match by term: Lig4 syndrome
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: LIG4-Related Disorders
PMID:10395545, PMID:11349135, PMID:11779494, PMID:12471202, PMID:15333585, PMID:16088910, PMID:16357942, PMID:16358361, PMID:16358631, PMID:16585603, PMID:17345618, PMID:18845326, PMID:23337116, PMID:23372718, PMID:24027040, PMID:24033266, PMID:24123394, PMID:24759409, PMID:24892279, PMID:25239263, PMID:25741868, PMID:26151233, PMID:26172957, PMID:26762768, PMID:27063650, PMID:27612988, PMID:27855655, PMID:27893162, PMID:28039949, PMID:28492532, PMID:28866308, PMID:29146883, PMID:30617623, PMID:30719430, PMID:19451691, PMID:27063650, PMID:20133615 RGD:8694074, RGD:13204707, RGD:13204717 NCBI chr16:85,331,771...85,339,496
Ensembl chr16:85,331,866...85,337,769
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Pathological Conditions, Signs and Symptoms 8735
      Pathologic Processes 6121
        Growth Disorders 321
          DNA ligase IV deficiency 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
                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.