{
    "disease_id": "DOID:0111973",
    "recommended_name": {
        "id": "DOID:0111973",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111973",
        "name": "immunodeficiency 17",
        "description": "A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clinical severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111973",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111973",
            "name": "CD3-gamma deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111973",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111973",
            "name": "IMD17",
            "description": ""
        },
        {
            "id": "DOID:0111973",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111973",
            "name": "immunodeficiency 17, CD3 gamma deficient",
            "description": ""
        },
        {
            "id": "DOID:0111973",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111973",
            "name": "SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive",
            "description": ""
        },
        {
            "id": "MONDO:0014276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014276",
            "name": "combined immunodeficiency due to CD3gamma deficiency",
            "description": "Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations."
        },
        {
            "id": "MONDO:0014276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014276",
            "name": "CD3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014276",
            "name": "CD3-gamma deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014276",
            "name": "CD3gamma deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014276",
            "name": "IMD17",
            "description": ""
        },
        {
            "id": "MONDO:0014276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014276",
            "name": "SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive",
            "description": ""
        },
        {
            "id": "MONDO:0014276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014276",
            "name": "combined immunodeficiency due to CD3gamma deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014276",
            "name": "immunodeficiency 17",
            "description": ""
        },
        {
            "id": "MONDO:0014276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014276",
            "name": "immunodeficiency type 17",
            "description": ""
        },
        {
            "id": "MIM:615607",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615607",
            "name": "Immunodeficiency 17",
            "description": "Immunodeficiency 17"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111973"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111973",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111973",
            "categories": []
        },
        {
            "id": "MONDO:0014276",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014276",
            "categories": []
        },
        {
            "id": "MIM:615607",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615607",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P11942-1",
            "uniprot_ac": "P11942",
            "uniprot_id": "CD3G_MOUSE",
            "refseq_ac": "NP_033980",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-cell surface glycoprotein CD3 gamma chain",
                    "type": "recommended"
                },
                {
                    "name": "T-cell receptor T3 gamma chain",
                    "type": "synonym"
                },
                {
                    "name": "T-cell surface glycoprotein CD3 gamma chain isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "T-cell surface glycoprotein CD3 gamma chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cd3g",
                    "type": "recommended"
                },
                {
                    "name": "Cd3g",
                    "type": "synonym"
                },
                {
                    "name": "Ctg-3",
                    "type": "synonym"
                },
                {
                    "name": "Ctg3",
                    "type": "synonym"
                },
                {
                    "name": "T3g",
                    "type": "synonym"
                }
            ],
            "record_id": "P11942-1",
            "evidence": [
                {
                    "id": "0111973",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111973"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09693-1",
            "uniprot_ac": "P09693",
            "uniprot_id": "CD3G_HUMAN",
            "refseq_ac": "NP_000064",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-cell surface glycoprotein CD3 gamma chain",
                    "type": "recommended"
                },
                {
                    "name": "CD3g antigen, gamma polypeptide (TiT3 complex)",
                    "type": "synonym"
                },
                {
                    "name": "CD3g molecule, epsilon (CD3-TCR complex)",
                    "type": "synonym"
                },
                {
                    "name": "CD3g molecule, gamma (CD3-TCR complex)",
                    "type": "synonym"
                },
                {
                    "name": "T-cell antigen receptor complex, gamma subunit of T3",
                    "type": "synonym"
                },
                {
                    "name": "T-cell receptor T3 gamma chain",
                    "type": "synonym"
                },
                {
                    "name": "T-cell surface glycoprotein CD3 gamma chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "T-cell surface glycoprotein CD3 gamma chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CD3G",
                    "type": "recommended"
                },
                {
                    "name": "CD3-GAMMA",
                    "type": "synonym"
                },
                {
                    "name": "CD3GAMMA",
                    "type": "synonym"
                },
                {
                    "name": "CD3G",
                    "type": "synonym"
                },
                {
                    "name": "IMD17",
                    "type": "synonym"
                },
                {
                    "name": "T3G",
                    "type": "synonym"
                }
            ],
            "record_id": "P09693-1",
            "evidence": [
                {
                    "id": "615607",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615607"
                },
                {
                    "id": "0111973",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111973"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64159-1",
            "uniprot_ac": "Q64159",
            "uniprot_id": "CD3G_RAT",
            "refseq_ac": "NP_001071114",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-cell surface glycoprotein CD3 gamma chain",
                    "type": "recommended"
                },
                {
                    "name": "CD3 antigen, gamma polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "CD3 gamma-chain",
                    "type": "synonym"
                },
                {
                    "name": "CD3 molecule, gamma polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "CD3g molecule",
                    "type": "synonym"
                },
                {
                    "name": "T-cell receptor T3 gamma chain",
                    "type": "synonym"
                },
                {
                    "name": "T-cell surface glycoprotein CD3 gamma chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "T-cell surface glycoprotein CD3 gamma chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cd3g",
                    "type": "recommended"
                },
                {
                    "name": "Cd3g",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64159-1",
            "evidence": [
                {
                    "id": "0111973",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111973"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111973"
}