ZFIN Human Disease: DNA ligase IV deficiency

OBO ID: DOID:0060021

Term Name:	DNA ligase IV deficiency		Search Ontology:
Synonyms:	LIG4 Syndrome
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. (2)
References:	OMIM:606593
Ontology:	Human Disease ( DOID:0060021 )

Relationships

is a type of:	autosomal recessive disease combined T cell and B cell immunodeficiency autosomal recessive disease combined T cell and B cell immunodeficiency Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
LIG4	lig4	LIG4 syndrome	606593

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None