{
    "disease_id": "DOID:0111941",
    "recommended_name": {
        "id": "DOID:0111941",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111941",
        "name": "immunodeficiency 20",
        "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": [
        {
            "id": "DOID:0111941",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111941",
            "name": "CD16 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111941",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111941",
            "name": "IMD20",
            "description": ""
        },
        {
            "id": "DOID:0111941",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111941",
            "name": "autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity",
            "description": ""
        },
        {
            "id": "DOID:0111941",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111941",
            "name": "autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity",
            "description": ""
        },
        {
            "id": "MONDO:0014313",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014313",
            "name": "autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity",
            "description": ""
        },
        {
            "id": "MONDO:0014313",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014313",
            "name": "CD16 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014313",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014313",
            "name": "autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity",
            "description": ""
        },
        {
            "id": "MONDO:0014313",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014313",
            "name": "immunodeficiency type 20",
            "description": ""
        },
        {
            "id": "MONDO:0014313",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014313",
            "name": "IMD20",
            "description": ""
        },
        {
            "id": "MONDO:0014313",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014313",
            "name": "immunodeficiency 20",
            "description": ""
        },
        {
            "id": "MIM:615707",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615707",
            "name": "Immunodeficiency 20",
            "description": "Immunodeficiency 20"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111941"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111941",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111941",
            "categories": []
        },
        {
            "id": "MONDO:0014313",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014313",
            "categories": []
        },
        {
            "id": "MIM:615707",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615707",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0B4J1G0-1",
            "uniprot_ac": "A0A0B4J1G0",
            "uniprot_id": "FCG3A_MOUSE",
            "refseq_ac": "NP_653142",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Low affinity immunoglobulin gamma Fc region receptor III-A",
                    "type": "recommended"
                },
                {
                    "name": "CD16-2",
                    "type": "synonym"
                },
                {
                    "name": "Fc fragment of IgG, low affinity III, receptor for (CD16)",
                    "type": "synonym"
                },
                {
                    "name": "Fc fragment of IgG, low affinity IIIa, receptor for (CD16)",
                    "type": "synonym"
                },
                {
                    "name": "Fc gammaRIV",
                    "type": "synonym"
                },
                {
                    "name": "Fc receptor-like 3",
                    "type": "synonym"
                },
                {
                    "name": "FcgammaRIV",
                    "type": "synonym"
                },
                {
                    "name": "IgG Fc receptor III-A",
                    "type": "synonym"
                },
                {
                    "name": "low affinity immunoglobulin gamma Fc region receptor III-A precursor",
                    "type": "synonym"
                },
                {
                    "name": "low affinity immunoglobulin gamma Fc region receptor III-A",
                    "type": "synonym"
                },
                {
                    "name": "low affinity immunoglobulin gamma Fc region receptor IV",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fcgr4",
                    "type": "recommended"
                },
                {
                    "name": "4833442P21Rik",
                    "type": "synonym"
                },
                {
                    "name": "CD16-2",
                    "type": "synonym"
                },
                {
                    "name": "FcgRIV",
                    "type": "synonym"
                },
                {
                    "name": "FcgammaRIV",
                    "type": "synonym"
                },
                {
                    "name": "Fcgr3a",
                    "type": "synonym"
                },
                {
                    "name": "Fcgr4",
                    "type": "synonym"
                },
                {
                    "name": "Fcrl3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4J1G0-1",
            "evidence": [
                {
                    "id": "0111941",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111941"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08637-1",
            "uniprot_ac": "P08637",
            "uniprot_id": "FCG3A_HUMAN",
            "refseq_ac": "NP_001121064",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Low affinity immunoglobulin gamma Fc region receptor III-A",
                    "type": "recommended"
                },
                {
                    "name": "CD16-II",
                    "type": "synonym"
                },
                {
                    "name": "CD16a antigen",
                    "type": "synonym"
                },
                {
                    "name": "Fc fragment of IgG receptor IIIa",
                    "type": "synonym"
                },
                {
                    "name": "Fc fragment of IgG, low affinity IIIa, receptor (CD16a)",
                    "type": "synonym"
                },
                {
                    "name": "Fc gamma receptor III-A",
                    "type": "synonym"
                },
                {
                    "name": "Fc-gamma RIII-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Fc-gamma RIIIa",
                    "type": "synonym"
                },
                {
                    "name": "Fc-gamma RIII",
                    "type": "synonym"
                },
                {
                    "name": "Fc-gamma receptor IIIb (CD16)",
                    "type": "synonym"
                },
                {
                    "name": "FcR-10",
                    "type": "synonym"
                },
                {
                    "name": "FcRIIIa",
                    "type": "synonym"
                },
                {
                    "name": "FcRIII",
                    "type": "synonym"
                },
                {
                    "name": "FcgammaRIIIA",
                    "type": "synonym"
                },
                {
                    "name": "IgG Fc receptor III-2",
                    "type": "synonym"
                },
                {
                    "name": "IgG Fc receptor III-A",
                    "type": "synonym"
                },
                {
                    "name": "igG Fc receptor III-2",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin G Fc receptor III",
                    "type": "synonym"
                },
                {
                    "name": "low affinity immunoglobulin gamma Fc region receptor III-A isoform b",
                    "type": "synonym"
                },
                {
                    "name": "low affinity immunoglobulin gamma Fc region receptor III-A",
                    "type": "synonym"
                },
                {
                    "name": "low affinity immunoglobulin gamma receptor III-a Fc fragment",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil-specific antigen NA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FCGR3A",
                    "type": "recommended"
                },
                {
                    "name": "CD16-II",
                    "type": "synonym"
                },
                {
                    "name": "CD16A",
                    "type": "synonym"
                },
                {
                    "name": "FCG3",
                    "type": "synonym"
                },
                {
                    "name": "FCGR3A",
                    "type": "synonym"
                },
                {
                    "name": "FCGR3",
                    "type": "synonym"
                },
                {
                    "name": "FCRIIIA",
                    "type": "synonym"
                },
                {
                    "name": "FcGRIIIA",
                    "type": "synonym"
                },
                {
                    "name": "IGFR3",
                    "type": "synonym"
                },
                {
                    "name": "IMD20",
                    "type": "synonym"
                }
            ],
            "record_id": "P08637-1",
            "evidence": [
                {
                    "id": "615707",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615707"
                },
                {
                    "id": "0111941",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111941"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6XPU4-1",
            "uniprot_ac": "Q6XPU4",
            "uniprot_id": "FCG3A_RAT",
            "refseq_ac": "NP_997486",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Low affinity immunoglobulin gamma Fc region receptor III-A",
                    "type": "recommended"
                },
                {
                    "name": "CD16-2",
                    "type": "synonym"
                },
                {
                    "name": "Fc fragment of IgG intermediate affinity IV receptor",
                    "type": "synonym"
                },
                {
                    "name": "Fc fragment of IgG receptor IIIa",
                    "type": "synonym"
                },
                {
                    "name": "Fc fragment of IgG, low affinity IIIa, receptor for (CD16)",
                    "type": "synonym"
                },
                {
                    "name": "Fc gamma receptor IIIa",
                    "type": "synonym"
                },
                {
                    "name": "FcgammaRIV",
                    "type": "synonym"
                },
                {
                    "name": "IgG Fc receptor III-A",
                    "type": "synonym"
                },
                {
                    "name": "fcgammaRIV",
                    "type": "synonym"
                },
                {
                    "name": "low affinity immunoglobulin gamma Fc region receptor III-A precursor",
                    "type": "synonym"
                },
                {
                    "name": "low affinity immunoglobulin gamma Fc region receptor III-A",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane receptor FcgammaRIII-X",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fcgr3a",
                    "type": "recommended"
                },
                {
                    "name": "CD16-2",
                    "type": "synonym"
                },
                {
                    "name": "Fcgr3a",
                    "type": "synonym"
                },
                {
                    "name": "Fcgr4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6XPU4-1",
            "evidence": [
                {
                    "id": "0111941",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111941"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15887-1",
            "uniprot_ac": "P15887",
            "uniprot_id": "ARRS_RAT",
            "refseq_ac": "NP_037155",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "S-arrestin",
                    "type": "recommended"
                },
                {
                    "name": "48 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Retinal S-antigen",
                    "type": "synonym"
                },
                {
                    "name": "Rod photoreceptor arrestin",
                    "type": "synonym"
                },
                {
                    "name": "S-AG",
                    "type": "synonym"
                },
                {
                    "name": "S-antigen",
                    "type": "synonym"
                },
                {
                    "name": "S-arrestin",
                    "type": "synonym"
                },
                {
                    "name": "retina and pineal gland (arrestin)",
                    "type": "synonym"
                },
                {
                    "name": "retinal S-antigen",
                    "type": "synonym"
                },
                {
                    "name": "rod photoreceptor arrestin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sag",
                    "type": "recommended"
                },
                {
                    "name": "SAGMR",
                    "type": "synonym"
                },
                {
                    "name": "SANTI",
                    "type": "synonym"
                },
                {
                    "name": "Sag",
                    "type": "synonym"
                }
            ],
            "record_id": "P15887-1",
            "evidence": [
                {
                    "id": "0111941",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111941"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111941"
}