{
    "disease_id": "DOID:0060013",
    "recommended_name": {
        "id": "DOID:0060013",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060013",
        "name": "X-linked severe combined immunodeficiency",
        "description": "A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells."
    },
    "synonyms": [
        {
            "id": "DOID:0060013",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060013",
            "name": "SCID-X1",
            "description": ""
        },
        {
            "id": "DOID:0060013",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060013",
            "name": "XSCID",
            "description": ""
        },
        {
            "id": "DOID:0060013",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060013",
            "name": "gamma chain deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060013",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060013",
            "name": "thymic epithelial hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "T-B+ severe combined immunodeficiency due to gamma chain deficiency",
            "description": "Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive."
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "SCIDX1",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "T-B+ SCID due to gamma chain deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "T-B+ severe combined immunodeficiency due to gamma chain deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "T-B+ severe combined immunodeficiency, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "X-linked severe combined immunodeficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "XSCID",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "severe combined immunodeficiency, X-linked, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "SCIDX",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "X-SCID",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "X-linked SCID",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "severe combined immunodeficiency T- B+ due to gamma chain deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "severe combined immunodeficiency T- B+, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "name": "severe combined immunodeficiency, X-linked",
            "description": ""
        },
        {
            "id": "MIM:300400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300400",
            "name": "Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative",
            "description": "Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060013"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060013",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060013",
            "categories": []
        },
        {
            "id": "MONDO:0010315",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010315",
            "categories": []
        },
        {
            "id": "MIM:300400",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300400",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AGM8-1",
            "uniprot_ac": "A0A8M3AGM8",
            "uniprot_id": "A0A8M3AGM8_DANRE",
            "refseq_ac": "XP_009289358",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin 2 receptor, gamma b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "interleukin 2 receptor, gamma b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "il2rgb",
                    "type": "recommended"
                },
                {
                    "name": "il-2rgc.b",
                    "type": "synonym"
                },
                {
                    "name": "il2rgb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AGM8-1",
            "evidence": [
                {
                    "id": "0060013",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060013"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P34902-1",
            "uniprot_ac": "P34902",
            "uniprot_id": "IL2RG_MOUSE",
            "refseq_ac": "NP_038591",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytokine receptor common subunit gamma",
                    "type": "recommended"
                },
                {
                    "name": "IL-2 receptor subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "IL-2R subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "IL-2RG",
                    "type": "synonym"
                },
                {
                    "name": "Interleukin-2 receptor subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "common gamma chain",
                    "type": "synonym"
                },
                {
                    "name": "cytokine receptor common subunit gamma isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytokine receptor common subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "gamma C receptor",
                    "type": "synonym"
                },
                {
                    "name": "gammaC",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-2 receptor subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "p64",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il2rg",
                    "type": "recommended"
                },
                {
                    "name": "CD132",
                    "type": "synonym"
                },
                {
                    "name": "Il2rg",
                    "type": "synonym"
                },
                {
                    "name": "[g]c",
                    "type": "synonym"
                },
                {
                    "name": "gamma(c)",
                    "type": "synonym"
                },
                {
                    "name": "gc",
                    "type": "synonym"
                },
                {
                    "name": "p64",
                    "type": "synonym"
                }
            ],
            "record_id": "P34902-1",
            "evidence": [
                {
                    "id": "0060013",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060013"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31785-1",
            "uniprot_ac": "P31785",
            "uniprot_id": "IL2RG_HUMAN",
            "refseq_ac": "NP_000197",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytokine receptor common subunit gamma",
                    "type": "recommended"
                },
                {
                    "name": "CD132 antigen",
                    "type": "synonym"
                },
                {
                    "name": "IL-2 receptor subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "IL-2R subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "IL-2RG",
                    "type": "synonym"
                },
                {
                    "name": "Interleukin-2 receptor subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "common cytokine receptor gamma chain",
                    "type": "synonym"
                },
                {
                    "name": "cytokine receptor common subunit gamma isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytokine receptor common subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "gammaC",
                    "type": "synonym"
                },
                {
                    "name": "interleukin 2 receptor, gamma",
                    "type": "synonym"
                },
                {
                    "name": "nonfunctional common cytokine receptor gamma chain",
                    "type": "synonym"
                },
                {
                    "name": "p64",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IL2RG",
                    "type": "recommended"
                },
                {
                    "name": "CD132",
                    "type": "synonym"
                },
                {
                    "name": "CIDX",
                    "type": "synonym"
                },
                {
                    "name": "IL-2RG",
                    "type": "synonym"
                },
                {
                    "name": "IL2RG",
                    "type": "synonym"
                },
                {
                    "name": "IMD4",
                    "type": "synonym"
                },
                {
                    "name": "P64",
                    "type": "synonym"
                },
                {
                    "name": "SCIDX1",
                    "type": "synonym"
                },
                {
                    "name": "SCIDX",
                    "type": "synonym"
                }
            ],
            "record_id": "P31785-1",
            "evidence": [
                {
                    "id": "300400",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300400"
                },
                {
                    "id": "0060013",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060013"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABZ3NN92-1",
            "uniprot_ac": "A0ABZ3NN92",
            "uniprot_id": "A0ABZ3NN92_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytokine receptor common subunit gamma",
                    "type": "recommended"
                },
                {
                    "name": "Interleukin-2 receptor subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "gammaC",
                    "type": "synonym"
                },
                {
                    "name": "p64",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cxhxorf65",
                    "type": "recommended"
                },
                {
                    "name": "Il2rg",
                    "type": "recommended"
                },
                {
                    "name": "CXHXorf65",
                    "type": "synonym"
                },
                {
                    "name": "Cxhxorf65",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABZ3NN92-1",
            "evidence": [
                {
                    "id": "0060013",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060013"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060013"
}