{
    "disease_id": "DOID:0060706",
    "recommended_name": {
        "id": "DOID:0060706",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060706",
        "name": "X-linked lymphoproliferative syndrome 2",
        "description": "A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25."
    },
    "synonyms": [
        {
            "id": "DOID:0060706",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060706",
            "name": "XIAP deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060706",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060706",
            "name": "XLP2",
            "description": ""
        },
        {
            "id": "MONDO:0010385",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010385",
            "name": "X-linked lymphoproliferative disease due to XIAP deficiency",
            "description": "A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2."
        },
        {
            "id": "MONDO:0010385",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010385",
            "name": "X-linked lymphoproliferative disease due to XIAP deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010385",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010385",
            "name": "X-linked lymphoproliferative syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010385",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010385",
            "name": "XIAP deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010385",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010385",
            "name": "XIAP deficiency/XLPs",
            "description": ""
        },
        {
            "id": "MONDO:0010385",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010385",
            "name": "XLP2",
            "description": ""
        },
        {
            "id": "MONDO:0010385",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010385",
            "name": "lymphoproliferative syndrome, X-linked, 2, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010385",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010385",
            "name": "lymphoproliferative syndrome, X-linked, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010385",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010385",
            "name": "XIAP-related lymphoproliferative disease, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010385",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010385",
            "name": "lymphoproliferative syndrome, X-linked, 2",
            "description": ""
        },
        {
            "id": "MIM:300635",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300635",
            "name": "Lymphoproliferative syndrome, X-linked, 2",
            "description": "Lymphoproliferative syndrome, X-linked, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060706"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060706",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060706",
            "categories": []
        },
        {
            "id": "MONDO:0010385",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010385",
            "categories": []
        },
        {
            "id": "MIM:300635",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300635",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q60989-1",
            "uniprot_ac": "Q60989",
            "uniprot_id": "XIAP_MOUSE",
            "refseq_ac": "NP_001288568",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase XIAP",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "Baculoviral IAP repeat-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase XIAP",
                    "type": "synonym"
                },
                {
                    "name": "IAP homolog A",
                    "type": "synonym"
                },
                {
                    "name": "IAP-3",
                    "type": "synonym"
                },
                {
                    "name": "Inhibitor of apoptosis protein 3",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase XIAP",
                    "type": "synonym"
                },
                {
                    "name": "X-linked IAP",
                    "type": "synonym"
                },
                {
                    "name": "X-linked inhibitor of apoptosis protein",
                    "type": "synonym"
                },
                {
                    "name": "baculoviral IAP repeat-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of apoptosis protein 3",
                    "type": "synonym"
                },
                {
                    "name": "mIAP-3",
                    "type": "synonym"
                },
                {
                    "name": "mIAP3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Xiap",
                    "type": "recommended"
                },
                {
                    "name": "1110015C02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Aipa",
                    "type": "synonym"
                },
                {
                    "name": "Api3",
                    "type": "synonym"
                },
                {
                    "name": "Birc4",
                    "type": "synonym"
                },
                {
                    "name": "IAP3",
                    "type": "synonym"
                },
                {
                    "name": "ILP-1",
                    "type": "synonym"
                },
                {
                    "name": "MIHA",
                    "type": "synonym"
                },
                {
                    "name": "Miha",
                    "type": "synonym"
                },
                {
                    "name": "Xiap",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60989-1",
            "evidence": [
                {
                    "id": "0060706",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060706"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P98170-1",
            "uniprot_ac": "P98170",
            "uniprot_id": "XIAP_HUMAN",
            "refseq_ac": "NP_001158",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase XIAP",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "Baculoviral IAP repeat-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase XIAP",
                    "type": "synonym"
                },
                {
                    "name": "IAP-3",
                    "type": "synonym"
                },
                {
                    "name": "IAP-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "IAP-like protein",
                    "type": "synonym"
                },
                {
                    "name": "ILP",
                    "type": "synonym"
                },
                {
                    "name": "Inhibitor of apoptosis protein 3",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase XIAP",
                    "type": "synonym"
                },
                {
                    "name": "X-linked IAP",
                    "type": "synonym"
                },
                {
                    "name": "X-linked inhibitor of apoptosis protein",
                    "type": "synonym"
                },
                {
                    "name": "X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase",
                    "type": "synonym"
                },
                {
                    "name": "baculoviral IAP repeat-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "hIAP-3",
                    "type": "synonym"
                },
                {
                    "name": "hIAP3",
                    "type": "synonym"
                },
                {
                    "name": "hILP",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of apoptosis protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "XIAP",
                    "type": "recommended"
                },
                {
                    "name": "API3",
                    "type": "synonym"
                },
                {
                    "name": "BIRC4",
                    "type": "synonym"
                },
                {
                    "name": "IAP-3",
                    "type": "synonym"
                },
                {
                    "name": "IAP3",
                    "type": "synonym"
                },
                {
                    "name": "ILP1",
                    "type": "synonym"
                },
                {
                    "name": "MIHA",
                    "type": "synonym"
                },
                {
                    "name": "XIAP",
                    "type": "synonym"
                },
                {
                    "name": "XLP2",
                    "type": "synonym"
                },
                {
                    "name": "hIAP-3",
                    "type": "synonym"
                },
                {
                    "name": "hIAP3",
                    "type": "synonym"
                }
            ],
            "record_id": "P98170-1",
            "evidence": [
                {
                    "id": "300635",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300635"
                },
                {
                    "id": "0060706",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060706"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R0I6-1",
            "uniprot_ac": "Q9R0I6",
            "uniprot_id": "XIAP_RAT",
            "refseq_ac": "NP_071567",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase XIAP",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "Baculoviral IAP repeat-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase XIAP",
                    "type": "synonym"
                },
                {
                    "name": "IAP homolog A",
                    "type": "synonym"
                },
                {
                    "name": "IAP-3",
                    "type": "synonym"
                },
                {
                    "name": "Inhibitor of apoptosis protein 3",
                    "type": "synonym"
                },
                {
                    "name": "RIAP-3",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase XIAP",
                    "type": "synonym"
                },
                {
                    "name": "X-linked IAP",
                    "type": "synonym"
                },
                {
                    "name": "X-linked inhibitor of apoptosis protein",
                    "type": "synonym"
                },
                {
                    "name": "X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis inhibitor protein 3",
                    "type": "synonym"
                },
                {
                    "name": "baculoviral IAP repeat-containing 4",
                    "type": "synonym"
                },
                {
                    "name": "baculoviral IAP repeat-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of apoptosis protein 3",
                    "type": "synonym"
                },
                {
                    "name": "rIAP-3",
                    "type": "synonym"
                },
                {
                    "name": "rIAP3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Xiap",
                    "type": "recommended"
                },
                {
                    "name": "Api3",
                    "type": "synonym"
                },
                {
                    "name": "Birc4",
                    "type": "synonym"
                },
                {
                    "name": "Xiap",
                    "type": "synonym"
                },
                {
                    "name": "riap3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R0I6-1",
            "evidence": [
                {
                    "id": "0060706",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060706"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24306-1",
            "uniprot_ac": "Q24306",
            "uniprot_id": "DIAP1_DROME",
            "refseq_ac": "NP_001261916",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Death-associated inhibitor of apoptosis 1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "Apoptosis 1 inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "CG12284-PD",
                    "type": "synonym"
                },
                {
                    "name": "DIAP1",
                    "type": "synonym"
                },
                {
                    "name": "Death-associated inhibitor of apoptosis 1, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Diap1-PD",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase th",
                    "type": "synonym"
                },
                {
                    "name": "Inhibitor of apoptosis 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein thread",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase Diap1",
                    "type": "synonym"
                },
                {
                    "name": "degradation of inhibitors of apoptosis",
                    "type": "synonym"
                },
                {
                    "name": "drosophila IAP1",
                    "type": "synonym"
                },
                {
                    "name": "drosophila inhibitor of apoptosis 1",
                    "type": "synonym"
                },
                {
                    "name": "drosophila inhibitor of apoptosis Protein-1",
                    "type": "synonym"
                },
                {
                    "name": "drosophila inhibitor of apoptosis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "drosophila inhibitor of apoptosis protein",
                    "type": "synonym"
                },
                {
                    "name": "drosophila inhibitor-of-apoptosis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "drosophila thread/inhibitor of apoptosis protein-1",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of apoptosis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of apoptosis-1",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of apoptotic protein 1",
                    "type": "synonym"
                },
                {
                    "name": "inhibitors of apoptosis protein",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) 72CDe",
                    "type": "synonym"
                },
                {
                    "name": "thread",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Diap1",
                    "type": "recommended"
                },
                {
                    "name": "01",
                    "type": "synonym"
                },
                {
                    "name": "03",
                    "type": "synonym"
                },
                {
                    "name": "0736/01",
                    "type": "synonym"
                },
                {
                    "name": "1065/03",
                    "type": "synonym"
                },
                {
                    "name": "CG12284",
                    "type": "synonym"
                },
                {
                    "name": "D-IAP1",
                    "type": "synonym"
                },
                {
                    "name": "D-iap1",
                    "type": "synonym"
                },
                {
                    "name": "DIAP I",
                    "type": "synonym"
                },
                {
                    "name": "DIAP-1",
                    "type": "synonym"
                },
                {
                    "name": "DIAP1",
                    "type": "synonym"
                },
                {
                    "name": "DIAPI",
                    "type": "synonym"
                },
                {
                    "name": "DIAP",
                    "type": "synonym"
                },
                {
                    "name": "DIAp",
                    "type": "synonym"
                },
                {
                    "name": "Diap-1/Th",
                    "type": "synonym"
                },
                {
                    "name": "Diap-1",
                    "type": "synonym"
                },
                {
                    "name": "Diap1",
                    "type": "synonym"
                },
                {
                    "name": "Diap",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12284",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12284",
                    "type": "synonym"
                },
                {
                    "name": "E(rpr)3-1",
                    "type": "synonym"
                },
                {
                    "name": "E3",
                    "type": "synonym"
                },
                {
                    "name": "IAP1",
                    "type": "synonym"
                },
                {
                    "name": "IAP",
                    "type": "synonym"
                },
                {
                    "name": "Iap1",
                    "type": "synonym"
                },
                {
                    "name": "Iap",
                    "type": "synonym"
                },
                {
                    "name": "S048915",
                    "type": "synonym"
                },
                {
                    "name": "TH",
                    "type": "synonym"
                },
                {
                    "name": "Thread",
                    "type": "synonym"
                },
                {
                    "name": "Th",
                    "type": "synonym"
                },
                {
                    "name": "dIAP-1",
                    "type": "synonym"
                },
                {
                    "name": "dIAP1",
                    "type": "synonym"
                },
                {
                    "name": "dIAP",
                    "type": "synonym"
                },
                {
                    "name": "dIap1",
                    "type": "synonym"
                },
                {
                    "name": "diap 1",
                    "type": "synonym"
                },
                {
                    "name": "diap-1",
                    "type": "synonym"
                },
                {
                    "name": "diap1/thread",
                    "type": "synonym"
                },
                {
                    "name": "diap1",
                    "type": "synonym"
                },
                {
                    "name": "diap",
                    "type": "synonym"
                },
                {
                    "name": "l(3)72CDe",
                    "type": "synonym"
                },
                {
                    "name": "l(3)72Dc",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S030605b",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S030605",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S106503",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j5C8",
                    "type": "synonym"
                },
                {
                    "name": "thread",
                    "type": "synonym"
                },
                {
                    "name": "th",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24306-1",
            "evidence": [
                {
                    "id": "0060706",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060706"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24307-1",
            "uniprot_ac": "Q24307",
            "uniprot_id": "DIAP2_DROME",
            "refseq_ac": "NP_477127",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Death-associated inhibitor of apoptosis 2",
                    "type": "recommended"
                },
                {
                    "name": "Apoptosis 2 inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "CG8293-PA",
                    "type": "synonym"
                },
                {
                    "name": "Death-associated inhibitor of apoptosis 2, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Diap2-PA",
                    "type": "synonym"
                },
                {
                    "name": "IAP homolog A",
                    "type": "synonym"
                },
                {
                    "name": "IAP-like protein",
                    "type": "synonym"
                },
                {
                    "name": "ILP",
                    "type": "synonym"
                },
                {
                    "name": "Inhibitor of apoptosis 2",
                    "type": "synonym"
                },
                {
                    "name": "dILP",
                    "type": "synonym"
                },
                {
                    "name": "drosophila inhibitor of apoptosis 2",
                    "type": "synonym"
                },
                {
                    "name": "drosophila melanogaster inhibitor of apoptosis 2",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of apoptosis protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Diap2",
                    "type": "recommended"
                },
                {
                    "name": "CG8293",
                    "type": "synonym"
                },
                {
                    "name": "D-IAP2",
                    "type": "synonym"
                },
                {
                    "name": "D-iap2",
                    "type": "synonym"
                },
                {
                    "name": "DIAP-2",
                    "type": "synonym"
                },
                {
                    "name": "DIAP1",
                    "type": "synonym"
                },
                {
                    "name": "DIAP2",
                    "type": "synonym"
                },
                {
                    "name": "DIAPII",
                    "type": "synonym"
                },
                {
                    "name": "DIAP",
                    "type": "synonym"
                },
                {
                    "name": "DIHA",
                    "type": "synonym"
                },
                {
                    "name": "Diap-2",
                    "type": "synonym"
                },
                {
                    "name": "Diap2",
                    "type": "synonym"
                },
                {
                    "name": "Diap",
                    "type": "synonym"
                },
                {
                    "name": "Diha",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8293",
                    "type": "synonym"
                },
                {
                    "name": "IAP2",
                    "type": "synonym"
                },
                {
                    "name": "IAP",
                    "type": "synonym"
                },
                {
                    "name": "Iap2",
                    "type": "synonym"
                },
                {
                    "name": "Ilp",
                    "type": "synonym"
                },
                {
                    "name": "dIAP2",
                    "type": "synonym"
                },
                {
                    "name": "dIAP",
                    "type": "synonym"
                },
                {
                    "name": "dILP",
                    "type": "synonym"
                },
                {
                    "name": "diap2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24307-1",
            "evidence": [
                {
                    "id": "0060706",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060706"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060706"
}