Dna Ligase Iv Deficiency
Disease ID: disease_node_13311
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| Dbxref | MIM:606593 |
|---|---|
| Subclassof | DOID_628, DOID_0050737 |
| Data Source | DOID |
| Synonyms | LIG4 Syndrome |
| Doid Label | DNA ligase IV deficiency |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Has Phenotype | HP_0001510 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13311 |
| Doid Id | DOID_0060021 |
| Label | Dna Ligase Iv Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Combined T Cell And B Cell Immunodeficiency(ID:disease_node_13297) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)