{
    "disease_id": "DOID:0060705",
    "recommended_name": {
        "id": "DOID:0060705",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060705",
        "name": "X-linked lymphoproliferative syndrome 1",
        "description": "A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25."
    },
    "synonyms": [
        {
            "id": "DOID:0060705",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060705",
            "name": "XLP1",
            "description": ""
        },
        {
            "id": "MONDO:0024551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024551",
            "name": "X-linked lymphoproliferative disease due to SH2D1A deficiency",
            "description": "A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells."
        },
        {
            "id": "MONDO:0024551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024551",
            "name": "X-linked lymphoproliferative disease due to SH2D1A deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0024551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024551",
            "name": "lymphoproliferative syndrome, X-linked, 1, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0024551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024551",
            "name": "XLP1",
            "description": ""
        },
        {
            "id": "MIM:308240",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/308240",
            "name": "Lymphoproliferative syndrome, X-linked, 1",
            "description": "Lymphoproliferative syndrome, X-linked, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060705"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060705",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060705",
            "categories": []
        },
        {
            "id": "MONDO:0024551",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024551",
            "categories": []
        },
        {
            "id": "MIM:308240",
            "database": "MIM",
            "url": "https://www.omim.org/entry/308240",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A2BGK3-1",
            "uniprot_ac": "A2BGK3",
            "uniprot_id": "A2BGK3_DANRE",
            "refseq_ac": "NP_001108163",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH2 domain containing 1A duplicate a",
                    "type": "synonym"
                },
                {
                    "name": "sh2d1a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sh2d1aa",
                    "type": "recommended"
                },
                {
                    "name": "sh2d1aa",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-13n15.6",
                    "type": "synonym"
                }
            ],
            "record_id": "A2BGK3-1",
            "evidence": [
                {
                    "id": "0060705",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060705"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7F0N7-1",
            "uniprot_ac": "E7F0N7",
            "uniprot_id": "E7F0N7_DANRE",
            "refseq_ac": "XP_021336965",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH2 domain-containing protein 1A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sh2d1ab",
                    "type": "recommended"
                },
                {
                    "name": "sh2d1ab",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F0N7-1",
            "evidence": [
                {
                    "id": "0060705",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060705"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88890-1",
            "uniprot_ac": "O88890",
            "uniprot_id": "SH21A_MOUSE",
            "refseq_ac": "NP_001300617",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH2 domain-containing protein 1A",
                    "type": "recommended"
                },
                {
                    "name": "Duncan disease homolog",
                    "type": "synonym"
                },
                {
                    "name": "SH2 domain protein 1A",
                    "type": "synonym"
                },
                {
                    "name": "SH2 domain-containing protein 1A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "SH2 domain-containing protein 1A",
                    "type": "synonym"
                },
                {
                    "name": "SLAM-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "Signaling lymphocytic activation molecule-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "T-cell signal transduction molecule SAP",
                    "type": "synonym"
                },
                {
                    "name": "signaling lymphocytic activation molecule-associated protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sh2d1a",
                    "type": "recommended"
                },
                {
                    "name": "Gm686",
                    "type": "synonym"
                },
                {
                    "name": "SAP",
                    "type": "synonym"
                },
                {
                    "name": "Sh2d1a",
                    "type": "synonym"
                },
                {
                    "name": "Xlp",
                    "type": "synonym"
                }
            ],
            "record_id": "O88890-1",
            "evidence": [
                {
                    "id": "0060705",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060705"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60880-1",
            "uniprot_ac": "O60880",
            "uniprot_id": "SH21A_HUMAN",
            "refseq_ac": "NP_001108409",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH2 domain-containing protein 1A",
                    "type": "recommended"
                },
                {
                    "name": "Duncan disease SH2-protein",
                    "type": "synonym"
                },
                {
                    "name": "SH2 domain-containing protein 1A isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "SLAM associated protein/SH2 domain protein 1A",
                    "type": "synonym"
                },
                {
                    "name": "SLAM-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "Signaling lymphocytic activation molecule-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "T cell signal transduction molecule SAP",
                    "type": "synonym"
                },
                {
                    "name": "T-cell signal transduction molecule SAP",
                    "type": "synonym"
                },
                {
                    "name": "signaling lymphocyte activation molecule-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "signaling lymphocytic activation molecule-associated protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SH2D1A",
                    "type": "recommended"
                },
                {
                    "name": "DSHP",
                    "type": "synonym"
                },
                {
                    "name": "EBVS",
                    "type": "synonym"
                },
                {
                    "name": "IMD5",
                    "type": "synonym"
                },
                {
                    "name": "LYP",
                    "type": "synonym"
                },
                {
                    "name": "MTCP1",
                    "type": "synonym"
                },
                {
                    "name": "SAP/SH2D1A",
                    "type": "synonym"
                },
                {
                    "name": "SAP",
                    "type": "synonym"
                },
                {
                    "name": "SH2D1A",
                    "type": "synonym"
                },
                {
                    "name": "XLPD1",
                    "type": "synonym"
                },
                {
                    "name": "XLPD",
                    "type": "synonym"
                },
                {
                    "name": "XLP",
                    "type": "synonym"
                }
            ],
            "record_id": "O60880-1",
            "evidence": [
                {
                    "id": "308240",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/308240"
                },
                {
                    "id": "0060705",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060705"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B2RZ59-1",
            "uniprot_ac": "B2RZ59",
            "uniprot_id": "SH21A_RAT",
            "refseq_ac": "NP_001102783",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH2 domain-containing protein 1A",
                    "type": "recommended"
                },
                {
                    "name": "SH2 domain protein 1A",
                    "type": "synonym"
                },
                {
                    "name": "SH2 domain-containing protein 1A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sh2d1a",
                    "type": "recommended"
                },
                {
                    "name": "RGD1562408",
                    "type": "synonym"
                },
                {
                    "name": "Sh2d1a",
                    "type": "synonym"
                }
            ],
            "record_id": "B2RZ59-1",
            "evidence": [
                {
                    "id": "0060705",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060705"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060705"
}