{
    "disease_id": "DOID:0111942",
    "recommended_name": {
        "id": "DOID:0111942",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111942",
        "name": "immunodeficiency 25",
        "description": "A T cell deficiency characterized by decreased T cell counts, normal B cell counts, and eosinophilia that has_material_basis_in homozygous or compound heterozygous mutation in the CD247 gene on chromosome 1q24.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111942",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111942",
            "name": "IMD25",
            "description": ""
        },
        {
            "id": "DOID:0111942",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111942",
            "name": "immunodeficiency due to defect in CD3-zeta",
            "description": ""
        },
        {
            "id": "MONDO:0012426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012426",
            "name": "immunodeficiency 25",
            "description": "Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene."
        },
        {
            "id": "MONDO:0012426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012426",
            "name": "CD247 severe combined immunodeficiency (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0012426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012426",
            "name": "CD3zeta deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012426",
            "name": "immunodeficiency 25",
            "description": ""
        },
        {
            "id": "MONDO:0012426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012426",
            "name": "immunodeficiency type 25",
            "description": ""
        },
        {
            "id": "MONDO:0012426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012426",
            "name": "severe combined immunodeficiency (disease) caused by mutation in CD247",
            "description": ""
        },
        {
            "id": "MONDO:0012426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012426",
            "name": "IMD25",
            "description": ""
        },
        {
            "id": "MIM:610163",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610163",
            "name": "Immunodeficiency 25",
            "description": "Immunodeficiency 25"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111942"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111942",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111942",
            "categories": []
        },
        {
            "id": "MONDO:0012426",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012426",
            "categories": []
        },
        {
            "id": "MIM:610163",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610163",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P24161-1",
            "uniprot_ac": "P24161",
            "uniprot_id": "CD3Z_MOUSE",
            "refseq_ac": "NP_001106862",
            "glycoprotein": "no",
            "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 zeta chain",
                    "type": "recommended"
                },
                {
                    "name": "CD247 antigen isoform zeta precursor",
                    "type": "synonym"
                },
                {
                    "name": "CD3 antigen, zeta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "CD3-zeta/eta",
                    "type": "synonym"
                },
                {
                    "name": "T-cell receptor T3 eta chain",
                    "type": "synonym"
                },
                {
                    "name": "T-cell receptor T3 zeta chain",
                    "type": "synonym"
                },
                {
                    "name": "T-cell surface glycoprotein CD3 zeta chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cd247",
                    "type": "recommended"
                },
                {
                    "name": "4930549J05Rik",
                    "type": "synonym"
                },
                {
                    "name": "A430104F18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cd247",
                    "type": "synonym"
                },
                {
                    "name": "Cd3-eta",
                    "type": "synonym"
                },
                {
                    "name": "Cd3-zeta",
                    "type": "synonym"
                },
                {
                    "name": "Cd3h",
                    "type": "synonym"
                },
                {
                    "name": "Cd3zeta",
                    "type": "synonym"
                },
                {
                    "name": "Cd3z",
                    "type": "synonym"
                },
                {
                    "name": "Cd3",
                    "type": "synonym"
                },
                {
                    "name": "T3z",
                    "type": "synonym"
                },
                {
                    "name": "Tcrk",
                    "type": "synonym"
                },
                {
                    "name": "Tcrz",
                    "type": "synonym"
                }
            ],
            "record_id": "P24161-1",
            "evidence": [
                {
                    "id": "0111942",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111942"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20963-1",
            "uniprot_ac": "P20963",
            "uniprot_id": "CD3Z_HUMAN",
            "refseq_ac": "NP_000725",
            "glycoprotein": "no",
            "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 zeta chain",
                    "type": "recommended"
                },
                {
                    "name": "CD247 antigen, zeta subunit",
                    "type": "synonym"
                },
                {
                    "name": "CD3Z antigen, zeta polypeptide (TiT3 complex)",
                    "type": "synonym"
                },
                {
                    "name": "CD3zeta chain",
                    "type": "synonym"
                },
                {
                    "name": "T-cell antigen receptor complex, zeta subunit of CD3",
                    "type": "synonym"
                },
                {
                    "name": "T-cell receptor T3 zeta chain",
                    "type": "synonym"
                },
                {
                    "name": "T-cell surface glycoprotein CD3 zeta chain isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "T-cell surface glycoprotein CD3 zeta chain",
                    "type": "synonym"
                },
                {
                    "name": "TCR zeta chain",
                    "type": "synonym"
                },
                {
                    "name": "tissue factor-targeting CAR1 dimer",
                    "type": "synonym"
                },
                {
                    "name": "tissue factor-targeting CAR1 monomer",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CD247",
                    "type": "recommended"
                },
                {
                    "name": "CD247",
                    "type": "synonym"
                },
                {
                    "name": "CD3-ZETA",
                    "type": "synonym"
                },
                {
                    "name": "CD3H",
                    "type": "synonym"
                },
                {
                    "name": "CD3Q",
                    "type": "synonym"
                },
                {
                    "name": "CD3ZETA",
                    "type": "synonym"
                },
                {
                    "name": "CD3Z",
                    "type": "synonym"
                },
                {
                    "name": "IMD25",
                    "type": "synonym"
                },
                {
                    "name": "T3Z",
                    "type": "synonym"
                },
                {
                    "name": "TCRZ",
                    "type": "synonym"
                }
            ],
            "record_id": "P20963-1",
            "evidence": [
                {
                    "id": "610163",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610163"
                },
                {
                    "id": "0111942",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111942"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4V7G0-1",
            "uniprot_ac": "Q4V7G0",
            "uniprot_id": "Q4V7G0_RAT",
            "refseq_ac": "NP_740770",
            "glycoprotein": "no",
            "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 zeta chain",
                    "type": "recommended"
                },
                {
                    "name": "CD247 antigen",
                    "type": "synonym"
                },
                {
                    "name": "CD3 antigen, zeta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "T-cell receptor CD3, subunit zeta",
                    "type": "synonym"
                },
                {
                    "name": "T-cell receptor T3 zeta chain",
                    "type": "synonym"
                },
                {
                    "name": "T-cell surface glycoprotein CD3 zeta chain isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "T-cell surface glycoprotein CD3 zeta chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cd247",
                    "type": "recommended"
                },
                {
                    "name": "Cd247",
                    "type": "synonym"
                },
                {
                    "name": "Cd3z",
                    "type": "synonym"
                },
                {
                    "name": "TCRzeta",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4V7G0-1",
            "evidence": [
                {
                    "id": "0111942",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111942"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111942"
}