Immunodeficiency 27b

Preferred Label : Immunodeficiency 27b;

Symbol : IMD27B;

CISMeF acronym : IMD27B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ifngr1 deficiency, autosomal dominant; Immunodeficiency 27b, mycobacteriosis, autosomal dominant;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the interferon-gamma receptor 1 gene (IFNGR1, 107470.0003);

Prefixed ID : #615978;

Details

Origin ID

615978;

UMLS CUI

C4014863;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency [ORDO Disease]
- IFNGR1 wt Allele [NCIt concept]
- immunodeficiency 27B [DO Concept]
DO Cross reference
- immunodeficiency 27B [DO Concept]
Genes related to phenotype
- Interferon-gamma receptor 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Generalized lymphadenopathy [HPO term]
- Immunodeficiency [HPO term]
- Osteomyelitis [HPO term]
- Recurrent mycobacterial infections [HPO term]
- Recurrent mycobacterium avium complex infections [HPO term]
- Salmonella osteomyelitis [HPO term]
ORDO concept(s)
- Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients