{
    "disease_id": "DOID:0061084",
    "recommended_name": {
        "id": "DOID:0061084",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061084",
        "name": "immunodeficiency 118",
        "description": "A primary immunodeficiency disease that is characterized by increased susceptibility to the development of disseminated mycobacterial infections in infancy, notably after BCG vaccination and that has_material_basis_in hemizygous mutation in the MCTS1 gene on chromosome Xq24."
    },
    "synonyms": [
        {
            "id": "MONDO:0958030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958030",
            "name": "immunodeficiency 118",
            "description": ""
        },
        {
            "id": "MIM:301115",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301115",
            "name": "Immunodeficiency 118",
            "description": "Immunodeficiency 118"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061084"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061084",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061084",
            "categories": []
        },
        {
            "id": "MONDO:0958030",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958030",
            "categories": []
        },
        {
            "id": "MIM:301115",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301115",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZV34-1",
            "uniprot_ac": "Q7ZV34",
            "uniprot_id": "MCTS1_DANRE",
            "refseq_ac": "NP_957365",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Malignant T-cell-amplified sequence 1",
                    "type": "recommended"
                },
                {
                    "name": "MCT-1",
                    "type": "synonym"
                },
                {
                    "name": "malignant T cell amplified sequence 1",
                    "type": "synonym"
                },
                {
                    "name": "malignant T-cell-amplified sequence 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mcts1",
                    "type": "recommended"
                },
                {
                    "name": "mcts1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56242",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZV34-1",
            "evidence": [
                {
                    "id": "0061084",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061084"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DB27-1",
            "uniprot_ac": "Q9DB27",
            "uniprot_id": "MCTS1_MOUSE",
            "refseq_ac": "NP_081178",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Malignant T-cell-amplified sequence 1",
                    "type": "recommended"
                },
                {
                    "name": "MCT-1",
                    "type": "synonym"
                },
                {
                    "name": "Multiple copies T-cell malignancies 1",
                    "type": "synonym"
                },
                {
                    "name": "malignant T-cell-amplified sequence 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "multiple copies T-cell malignancies 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mcts1",
                    "type": "recommended"
                },
                {
                    "name": "1500019M23Rik",
                    "type": "synonym"
                },
                {
                    "name": "MCT-1",
                    "type": "synonym"
                },
                {
                    "name": "Mcts1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DB27-1",
            "evidence": [
                {
                    "id": "0061084",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061084"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ULC4-1",
            "uniprot_ac": "Q9ULC4",
            "uniprot_id": "MCTS1_HUMAN",
            "refseq_ac": "NP_001131026",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Malignant T-cell-amplified sequence 1",
                    "type": "recommended"
                },
                {
                    "name": "MCT-1",
                    "type": "synonym"
                },
                {
                    "name": "Multiple copies T-cell malignancies",
                    "type": "synonym"
                },
                {
                    "name": "malignant T-cell amplified sequence 1",
                    "type": "synonym"
                },
                {
                    "name": "malignant T-cell-amplified sequence 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "multiple copies T-cell malignancies",
                    "type": "synonym"
                },
                {
                    "name": "multiple copies in T-cell lymphoma-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MCTS1",
                    "type": "recommended"
                },
                {
                    "name": "IMD118",
                    "type": "synonym"
                },
                {
                    "name": "MCT-1",
                    "type": "synonym"
                },
                {
                    "name": "MCT1",
                    "type": "synonym"
                },
                {
                    "name": "MCTS1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ULC4-1",
            "evidence": [
                {
                    "id": "301115",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301115"
                },
                {
                    "id": "0061084",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061084"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P89886-1",
            "uniprot_ac": "P89886",
            "uniprot_id": "TMA20_YEAST",
            "refseq_ac": "NP_010923",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation machinery-associated protein 20",
                    "type": "recommended"
                },
                {
                    "name": "translation machinery-associated protein 20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TMA20",
                    "type": "recommended"
                },
                {
                    "name": "TMA20",
                    "type": "synonym"
                }
            ],
            "record_id": "P89886-1",
            "evidence": [
                {
                    "id": "0061084",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061084"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4G009-1",
            "uniprot_ac": "Q4G009",
            "uniprot_id": "MCTS1_RAT",
            "refseq_ac": "NP_001037702",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Malignant T-cell-amplified sequence 1",
                    "type": "recommended"
                },
                {
                    "name": "MCT-1",
                    "type": "synonym"
                },
                {
                    "name": "malignant T-cell-amplified sequence 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "malignant T-cell-amplified sequence 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mcts1",
                    "type": "recommended"
                },
                {
                    "name": "Mcts1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4G009-1",
            "evidence": [
                {
                    "id": "0061084",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061084"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W445-1",
            "uniprot_ac": "Q9W445",
            "uniprot_id": "MCTS1_DROME",
            "refseq_ac": "NP_001245541",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Malignant T-cell-amplified sequence 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG5941-PB",
                    "type": "synonym"
                },
                {
                    "name": "MCT-1",
                    "type": "synonym"
                },
                {
                    "name": "MCTS1-PB",
                    "type": "synonym"
                },
                {
                    "name": "Multiple copies in T-cell lymphoma 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "malignant T cell amplified sequence 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "multiple copies in T-cell lymphoma-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MCTS1",
                    "type": "recommended"
                },
                {
                    "name": "CG5941",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5941",
                    "type": "synonym"
                },
                {
                    "name": "MCT-1",
                    "type": "synonym"
                },
                {
                    "name": "MCTS1",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO03040301.150",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO03040301.151",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W445-1",
            "evidence": [
                {
                    "id": "0061084",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061084"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061084"
}