Immunodeficiency 39

Preferred Label : Immunodeficiency 39;

Symbol : IMD39;

CISMeF acronym : IMD39;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the interferon regulatory factor 7 gene (IRF7, 605047.0001);

Prefixed ID : #616345;

Details

Origin ID

616345;

UMLS CUI

C4225358;

Automatic exact mappings (from CISMeF team)
- IRF7 wt Allele [NCIt concept]
- immunodeficiency 39 [DO Concept]
DO Cross reference
- immunodeficiency 39 [DO Concept]
Genes related to phenotype
- Interferon regulatory factor 7 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Immunodeficiency [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Predisposition to severe viral infection due to interferon regulatory factor 7 deficiency (disorder) [SNOMED CT concept]

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