{
    "disease_id": "DOID:0080319",
    "recommended_name": {
        "id": "DOID:0080319",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080319",
        "name": "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia",
        "description": "A T cell deficiency that is characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation in males and has_material_basis_in X-linked inheritance of mutations in the gene encoding magnesium transporter-1 (MAGT1)."
    },
    "synonyms": [
        {
            "id": "DOID:0080319",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080319",
            "name": "XMEN",
            "description": ""
        },
        {
            "id": "MONDO:0010455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010455",
            "name": "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia",
            "description": "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyzes show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias."
        },
        {
            "id": "MONDO:0010455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010455",
            "name": "Cid due to MAGT1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010455",
            "name": "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010455",
            "name": "XMEN",
            "description": ""
        },
        {
            "id": "MONDO:0010455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010455",
            "name": "combined immunodeficiency due to MAGT1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010455",
            "name": "immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010455",
            "name": "X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010455",
            "name": "immunodeficiency, X-linked, with magnesium defect, Epstein-Barr VIRUS infection, and neoplasia",
            "description": ""
        },
        {
            "id": "MIM:300853",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300853",
            "name": "Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia",
            "description": "Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080319"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080319",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080319",
            "categories": []
        },
        {
            "id": "MONDO:0010455",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010455",
            "categories": []
        },
        {
            "id": "MIM:300853",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300853",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZV50-1",
            "uniprot_ac": "Q7ZV50",
            "uniprot_id": "MAGT1_DANRE",
            "refseq_ac": "NP_955994",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1",
                    "type": "recommended"
                },
                {
                    "name": "MagT1",
                    "type": "synonym"
                },
                {
                    "name": "Magnesium transporter protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase subunit MAGT1",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1",
                    "type": "synonym"
                },
                {
                    "name": "magnesium transporter protein 1",
                    "type": "synonym"
                },
                {
                    "name": "oligosaccharyl transferase subunit MAGT1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "magt1",
                    "type": "recommended"
                },
                {
                    "name": "fc49b02",
                    "type": "synonym"
                },
                {
                    "name": "magt1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc49b02",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56218",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZV50-1",
            "evidence": [
                {
                    "id": "0080319",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080319"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CQY5-1",
            "uniprot_ac": "Q9CQY5",
            "uniprot_id": "MAGT1_MOUSE",
            "refseq_ac": "NP_001177338",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1",
                    "type": "recommended"
                },
                {
                    "name": "IAP",
                    "type": "synonym"
                },
                {
                    "name": "Implantation-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "MagT1",
                    "type": "synonym"
                },
                {
                    "name": "Magnesium transporter protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase subunit MAGT1",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1",
                    "type": "synonym"
                },
                {
                    "name": "implantation-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "magnesium transporter protein 1",
                    "type": "synonym"
                },
                {
                    "name": "oligosaccharyl transferase subunit MAGT1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Magt1",
                    "type": "recommended"
                },
                {
                    "name": "2410001C15Rik",
                    "type": "synonym"
                },
                {
                    "name": "2610529C04Rik",
                    "type": "synonym"
                },
                {
                    "name": "2810482I07Rik",
                    "type": "synonym"
                },
                {
                    "name": "IAG2",
                    "type": "synonym"
                },
                {
                    "name": "IAP",
                    "type": "synonym"
                },
                {
                    "name": "Iag2",
                    "type": "synonym"
                },
                {
                    "name": "Magt1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CQY5-1",
            "evidence": [
                {
                    "id": "0080319",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080319"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H0U3-1",
            "uniprot_ac": "Q9H0U3",
            "uniprot_id": "MAGT1_HUMAN",
            "refseq_ac": "NP_115497",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1",
                    "type": "recommended"
                },
                {
                    "name": "IAP",
                    "type": "synonym"
                },
                {
                    "name": "Implantation-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "MagT1",
                    "type": "synonym"
                },
                {
                    "name": "Magnesium transporter protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase subunit MAGT1",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1",
                    "type": "synonym"
                },
                {
                    "name": "implantation-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "oligosaccharyl transferase subunit MAGT1",
                    "type": "synonym"
                },
                {
                    "name": "oligosaccharyltransferase 3 homolog B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAGT1",
                    "type": "recommended"
                },
                {
                    "name": "CDG1CC",
                    "type": "synonym"
                },
                {
                    "name": "IAG2",
                    "type": "synonym"
                },
                {
                    "name": "IAP",
                    "type": "synonym"
                },
                {
                    "name": "MAGT1",
                    "type": "synonym"
                },
                {
                    "name": "MRX95",
                    "type": "synonym"
                },
                {
                    "name": "OST3B",
                    "type": "synonym"
                },
                {
                    "name": "PRO0756",
                    "type": "synonym"
                },
                {
                    "name": "PRO1244",
                    "type": "synonym"
                },
                {
                    "name": "PSEC0084",
                    "type": "synonym"
                },
                {
                    "name": "SLC58A1",
                    "type": "synonym"
                },
                {
                    "name": "XMEN",
                    "type": "synonym"
                },
                {
                    "name": "bA217H1.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H0U3-1",
            "evidence": [
                {
                    "id": "300853",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300853"
                },
                {
                    "id": "MAGT1",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/MAGT1/#!details"
                },
                {
                    "id": "0080319",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080319"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48439-1",
            "uniprot_ac": "P48439",
            "uniprot_id": "OST3_YEAST",
            "refseq_ac": "NP_014728",
            "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": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 3",
                    "type": "recommended"
                },
                {
                    "name": "Oligosaccharyl transferase 34 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase subunit OST3",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycotransferase OST3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OST3",
                    "type": "recommended"
                },
                {
                    "name": "OST3",
                    "type": "synonym"
                },
                {
                    "name": "YOR3124W",
                    "type": "synonym"
                }
            ],
            "record_id": "P48439-1",
            "evidence": [
                {
                    "id": "0080319",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080319"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03723-1",
            "uniprot_ac": "Q03723",
            "uniprot_id": "OST6_YEAST",
            "refseq_ac": "NP_013693",
            "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": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit OST6",
                    "type": "recommended"
                },
                {
                    "name": "OTase 37 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase 37 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase subunit OST6",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycotransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OST6",
                    "type": "recommended"
                },
                {
                    "name": "OST6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03723-1",
            "evidence": [
                {
                    "id": "0080319",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080319"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35777-1",
            "uniprot_ac": "O35777",
            "uniprot_id": "MAGT1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1",
                    "type": "recommended"
                },
                {
                    "name": "IAP",
                    "type": "synonym"
                },
                {
                    "name": "Implantation-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "MagT1",
                    "type": "synonym"
                },
                {
                    "name": "Magnesium transporter protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase subunit MAGT1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Magt1",
                    "type": "recommended"
                },
                {
                    "name": "Iag2",
                    "type": "synonym"
                }
            ],
            "record_id": "O35777-1",
            "evidence": [
                {
                    "id": "0080319",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080319"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080319"
}