GATA2 Deficiency

Preferred Label : GATA2 Deficiency;

NCIt synonyms : Immunodeficiency 21; Monocytopenia and Mycobacterial Infection Syndrome; MonoMAC Syndrome;

NCIt related terms : GATA2 deficiency/MonoMac syndrome;

NCIt definition : A condition of decreased or absent presence or activity of endothelial transcription factor GATA-2 protein. Deficiency of this protein is associated with immunodeficiency 21 and autosomal dominant and sporadic monocytopenia and mycobacterial infection syndrome (MonoMAC).;

NCI Metathesaurus CUI : CL412309;

Details

Origin ID

C126349;

UMLS CUI

C3280030;

Automatic exact mappings (from CISMeF team)
- GATA2 Deficiency [MeSH concept]
- GATA2 deficiency [MedDRA Preferred Term]
- Immunodeficiency 21 [OMIM Phenotype]
- MonoMAC syndrome [ICD-11 More detail]
- Monocytopenia with susceptibility to infections [ORDO Disease]
- Monocytopenia with susceptibility to infections (disorder) [SNOMED CT concept]
- immunodeficiency 21 [DO Concept]
Currated CISMeF NLP mapping
- GATA2 Deficiency [MeSH Descriptor]
DO Cross reference
- immunodeficiency 21 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- GATA2 Deficiency [MeSH Descriptor]
- GATA2 deficiency [MedDRA Preferred Term]
- Immunodeficiency 21 [OMIM Phenotype]
- Monocytopenia with susceptibility to infections (disorder) [SNOMED CT concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_mapped_to_gene
- GATA2 Gene [NCIt concept]
related_to_genetic_biomarker
- GATA2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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