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
|OMIM:606593 - LIG4 SYNDROME|
|MONDO:0011686 - DNA ligase IV deficiency|
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes : lig4
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD