Immunodeficiency 45

Preferred Label : Immunodeficiency 45;

Symbol : IMD45;

CISMeF acronym : IMD45;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the interferon, alpha, beta, and omega, receptor 2 gene (IRNAR2, 602376.0002);

Prefixed ID : #616669;

Details

Origin ID

616669;

UMLS CUI

C4225252;

Automatic exact mappings (from CISMeF team)
- immunodeficiency 45 [DO Concept]
DO Cross reference
- immunodeficiency 45 [DO Concept]
Genes related to phenotype
- Interferon-alpha, -beta, and -omega receptor 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Post-vaccination measles [HPO term]
ORDO concept(s)
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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