Immunodeficiency 27A

Preferred Label : Immunodeficiency 27A;

NCIt synonyms : IFNGR1 Deficiency; IMD27A; MSMD due to Complete IFNGR1 Deficiency; Interferon Gamma Receptor 1 Deficiency; Mendelian Susceptibility to Mycobacterial Diseases due to Complete IFNgammaR1 Deficiency; MSMD due to Complete IFNgammaR1 Deficiency; Autosomal Recessive Interferon Gamma Receptor 1 Deficiency; Autosomal Recessive IFNGR1 Deficiency;

NCIt related terms : IFNGR 1 Deficiency;

NCIt definition : A genetic condition caused by mutation(s) in the IFNGR1 gene, encoding interferon gamma receptor 1, resulting in impairment of interferon-gamma mediated immunity. Clinically, it is characterized by predisposition to illness caused by moderately virulent mycobacterial species.;

Details

Origin ID

C176806;

UMLS CUI

C4011949;

Automatic exact mappings (from CISMeF team)
- immunodeficiency 27A [DO Concept]
Currated CISMeF NLP mapping
- Immunodeficiency 27a [OMIM Phenotype]
- Interferon gamma, receptor 1, deficiency [MeSH concept]
- Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency (disorder) [SNOMED CT concept]
- Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency [ORDO Disease]
- interferon gamma, receptor 1, deficiency [MeSH Supplementary Concept]
See also inter- (CISMeF)
- atypical mycobacteriosis, familial [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunodeficiency 27a [OMIM Phenotype]
- Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency (disorder) [SNOMED CT concept]
- interferon gamma, receptor 1, deficiency [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- IFNGR1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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