Immunodeficiency 65, susceptibility to viral infections

Preferred Label : Immunodeficiency 65, susceptibility to viral infections;

Symbol : IMD65;

CISMeF acronym : IMD65;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the interferon regulatory factor 9 gene (IRF9, 147574.0001);

Laboratory abnormalities : Impaired control of viral replication; Impaired interferon response to viruses;

Prefixed ID : #618648;

Details

Origin ID

618648;

UMLS CUI

C5231441;

Currated CISMeF NLP mapping
- immunodeficiency 65 [DO Concept]
DO Cross reference
- immunodeficiency 65 [DO Concept]
Genes related to phenotype
- Interferon regulatory factor 9 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Gingivitis [HPO term]
- Recurrent gastroenteritis [HPO term]
- Recurrent viral infections [HPO term]
- Stomatitis [HPO term]
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