DNA Ligase I Deficiency

Preferred Label : DNA Ligase I Deficiency;

NCIt definition : A very rare genetic syndrome characterized by reduced replicative DNA ligase I. It results in immunodeficiency and cellular hypersensitivity to DNA-damaging agents.;

Details

Origin ID

C122658;

UMLS CUI

C4016019;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
related_to_genetic_biomarker
- LIG1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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