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DO Term : immunodeficiency 20 [DOID:0111941] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that has_material_basis_in homozygous or compound heterozygous mutation in the FCGR3A gene on chromosome 1q23.3.

synonyms:
OMIM:615707,
IMD20,
ORDO:437552,
autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity,
CD16 deficiency,
615707,
autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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