Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect

Preferred Label : Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect;

NCIt synonyms : Immunodeficiency 54; IMD54;

NCIt related terms : Mini-chromosome Maintenance 4;

NCIt definition : A congenital condition characterized by growth retardation, a decreased number of NK cells, glucocorticoid deficiency, and increased chromosome breakage, associated with mutation(s) in the MCM4 gene.;

Alternative definition : NICHD: An autosomal recessive condition characterized by intrauterine and extrauterine growth restriction, decreased numbers of natural killer cells, glucocorticoid deficiency, and increased chromosome breakage; it is associated with mutation(s) in the MCM4 gene.;

Details

Origin ID

C123729;

UMLS CUI

C1864947;

Currated CISMeF NLP mapping
- Immunodeficiency 54 [OMIM Phenotype]
- Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder) [SNOMED CT concept]
- Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [ORDO Disease]
- immunodeficiency 54 [DO Concept]
- natural killer cell deficiency, familial isolated [MeSH Supplementary Concept]
- natural killer cell deficiency, familial isolated [MeSH concept]
DO Cross reference
- immunodeficiency 54 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunodeficiency 54 [OMIM Phenotype]
- Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [ORDO Disease]
- immunodeficiency 54 [DO Concept]
- natural killer cell deficiency, familial isolated [MeSH Supplementary Concept]
- natural killer cell deficiency, familial isolated [MeSH concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_gene
- MCM4 Gene [NCIt concept]
related_to_genetic_biomarker
- MCM4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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