Immunodeficiency 20

Preferred Label : Immunodeficiency 20;

Symbol : IMD20;

CISMeF acronym : IMD20;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the receptor for the Fc fragment of IgG, low affinity IIIa (FCGR3A, 146740.0002);

Prefixed ID : #615707;

Details

Origin ID

615707;

UMLS CUI

C3810342;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity [ORDO Disease]
- FCGR3A wt Allele [NCIt concept]
- immunodeficiency 20 [DO Concept]
DO Cross reference
- immunodeficiency 20 [DO Concept]
Genes related to phenotype
- Fc fragment of igg receptor iiia [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- BCGitis [HPO term]
- Immunodeficiency [HPO term]
- Infantile onset [HPO term]
- Recurrent oral herpes [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent sinusitis [HPO term]
- Recurrent viral upper respiratory tract infections [HPO term]
- Reduced natural killer cell activity [HPO term]
- Reduced natural killer cell count [HPO term]
- Severe varicella zoster infection [HPO term]
- Wheezing [HPO term]
ORDO concept(s)
- Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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