DNA ligase IV deficiency

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: lig4

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011686 - DNA ligase IV deficiency

MONDO:0011686 - DNA ligase IV deficiency

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): combined T cell and B cell immunodeficiency (is_a)