Disease association ontology term - MONDO:0011686 - DNA ligase IV deficiency
Term summary
- ID
- MONDO:0011686
- Name
- DNA ligase IV deficiency
- Ontology or CV name
- Disease association
- Definition
- LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).
