Immunodeficiency 28

Preferred Label : Immunodeficiency 28;

Symbol : IMD28;

CISMeF acronym : IMD28;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ifngr2 deficiency; Immunodeficiency 28, mycobacteriosis, autosomal recessive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the interferon-gamma receptor 2 gene (IFNGR2, 147569.0001);

Prefixed ID : #614889;

Details

Origin ID

614889;

UMLS CUI

C4013947;

Automatic exact mappings (from CISMeF team)
- IFNGR2 wt Allele [NCIt concept]
- immunodeficiency 28 [DO Concept]
Currated CISMeF NLP mapping
- Interferon Gamma Receptor 2 Deficiency [NCIt concept]
DO Cross reference
- immunodeficiency 28 [DO Concept]
Genes related to phenotype
- Interferon-gamma receptor 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Immunodeficiency [HPO term]
- Recurrent mycobacterial infections [HPO term]
ORDO concept(s)
- Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency [ORDO Disease]
- Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Interferon Gamma Receptor 2 Deficiency [NCIt concept]

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