DNA-ligase IV deficiency

Preferred Label : DNA-ligase IV deficiency;

ICD-11 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).;

ICD-11 synonym : Ligase 4 syndrome; LIG4 deficiency;

Détails

Origin ID

969767034;

Currated CISMeF NLP mapping
- DNA ligase IV deficiency [DO Concept]
- LIG4 Syndrome [NCIt concept]
- LIG4 syndrome [MeSH Supplementary Concept]
- LIG4 syndrome [MeSH concept]
- LIG4 syndrome [ORDO Disease]
- Lig4 syndrome [OMIM Phenotype]
- Ligase 4 syndrome (disorder) [SNOMED CT concept]

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