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Summary Literature (0)
DOID:0060021 - DNA ligase IV deficiency

Disease Ontology 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.

Synonyms: LIG4 Syndrome

Xenbase Genes : lig4

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011686 - DNA ligase IV deficiency


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), combined T cell and B cell immunodeficiency (is_a)