LIG4 Syndrome - CISMeF

Preferred Label : LIG4 Syndrome;

NCIt definition : A very rare genetic disorder caused by mutation in the LIG4 gene. It is characterized by unusual facial features, microcephaly, growth and developmental delay, severe immunodeficiency, and skin abnormalities.;

Details

Origin ID

C122657;

UMLS CUI

C1847827;

Currated CISMeF NLP mapping
- DNA ligase IV deficiency [DO Concept]
- DNA-ligase IV deficiency [ICD-11 More detail]
- LIG4 syndrome [MeSH Supplementary Concept]
- LIG4 syndrome [MeSH concept]
- LIG4 syndrome [ORDO Disease]
- Lig4 syndrome [OMIM Phenotype]
- Ligase 4 syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- LIG4 syndrome [ORDO Disease]
- LIG4 syndrome [MeSH Supplementary Concept]
- LIG4 syndrome [MeSH concept]
- Lig4 syndrome [OMIM Phenotype]
- Ligase 4 syndrome (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- LIG4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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