Interferon Gamma Receptor 2 Deficiency

Preferred Label : Interferon Gamma Receptor 2 Deficiency;

NCIt synonyms : IFNGR2 Deficiency;

NCIt related terms : IFNGR 2 Deficiency;

NCIt definition : A genetic condition caused by mutation(s) in the IFNGR2 gene, encoding interferon gamma receptor 2, resulting in impairment of interferon-gamma mediated immunity. Clinically, it is characterized by predisposition to illness caused by moderately virulent mycobacterial species.;

Détails

Origin ID

C176805;

UMLS CUI

C4013947;

Automatic exact mappings (from CISMeF team)
- immunodeficiency 28 [DO Concept]
Currated CISMeF NLP mapping
- Immunodeficiency 28 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunodeficiency 28 [OMIM Phenotype]
disease_has_primary_anatomic_site
- Immune System [NCIt concept]
disease_mapped_to_gene
- IFNGR2 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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