{
    "disease_id": "DOID:0110116",
    "recommended_name": {
        "id": "DOID:0110116",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110116",
        "name": "autoimmune lymphoproliferative syndrome type 2B",
        "description": "An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the CASP8 gene on chromosome 2q33."
    },
    "synonyms": [
        {
            "id": "DOID:0110116",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110116",
            "name": "autoimmune lymphoproliferative syndrome with recurrent viral infections",
            "description": ""
        },
        {
            "id": "DOID:0110116",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110116",
            "name": "ALPS with recurrent viral infections",
            "description": ""
        },
        {
            "id": "DOID:0110116",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110116",
            "name": "ALPS2B",
            "description": ""
        },
        {
            "id": "DOID:0110116",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110116",
            "name": "CEDS",
            "description": ""
        },
        {
            "id": "DOID:0110116",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110116",
            "name": "Caspase 8 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110116",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110116",
            "name": "Caspase 8 deficiency syndrome",
            "description": ""
        },
        {
            "id": "DOID:0110116",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110116",
            "name": "Caspase eight deficiency state",
            "description": ""
        },
        {
            "id": "DOID:0110116",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110116",
            "name": "autoimmune lymphoproliferative syndrome type IIB",
            "description": ""
        },
        {
            "id": "MONDO:0011804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011804",
            "name": "autoimmune lymphoproliferative syndrome type 2B",
            "description": "Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses."
        },
        {
            "id": "MONDO:0011804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011804",
            "name": "ALPS2B",
            "description": ""
        },
        {
            "id": "MONDO:0011804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011804",
            "name": "CASP8 autoimmune lymphoproliferative syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011804",
            "name": "CEDS",
            "description": ""
        },
        {
            "id": "MONDO:0011804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011804",
            "name": "autoimmune lymphoproliferative syndrome caused by mutation in CASP8",
            "description": ""
        },
        {
            "id": "MONDO:0011804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011804",
            "name": "autoimmune lymphoproliferative syndrome, type IIB",
            "description": ""
        },
        {
            "id": "MONDO:0011804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011804",
            "name": "caspase 8 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011804",
            "name": "caspase 8 deficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011804",
            "name": "caspase-8 deficiency",
            "description": ""
        },
        {
            "id": "MIM:607271",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607271",
            "name": "Caspase-8 deficiency",
            "description": "Caspase-8 deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110116"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110116",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110116",
            "categories": []
        },
        {
            "id": "MONDO:0011804",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011804",
            "categories": []
        },
        {
            "id": "MIM:607271",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607271",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O89110-1",
            "uniprot_ac": "O89110",
            "uniprot_id": "CASP8_MOUSE",
            "refseq_ac": "NP_001073595",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Caspase-8",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.61",
                    "type": "synonym"
                },
                {
                    "name": "CASP-8",
                    "type": "synonym"
                },
                {
                    "name": "Fas-linked ICE-like protease",
                    "type": "synonym"
                },
                {
                    "name": "caspase-8 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Casp8",
                    "type": "recommended"
                },
                {
                    "name": "CASP-8",
                    "type": "synonym"
                },
                {
                    "name": "Casp8",
                    "type": "synonym"
                },
                {
                    "name": "FLICE",
                    "type": "synonym"
                },
                {
                    "name": "MACH",
                    "type": "synonym"
                },
                {
                    "name": "Mch5",
                    "type": "synonym"
                }
            ],
            "record_id": "O89110-1",
            "evidence": [
                {
                    "id": "0110116",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110116"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14790-1",
            "uniprot_ac": "Q14790",
            "uniprot_id": "CASP8_HUMAN",
            "refseq_ac": "NP_001073593",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Caspase-8",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.61",
                    "type": "synonym"
                },
                {
                    "name": "Apoptotic cysteine protease",
                    "type": "synonym"
                },
                {
                    "name": "Apoptotic protease Mch-5",
                    "type": "synonym"
                },
                {
                    "name": "CAP4",
                    "type": "synonym"
                },
                {
                    "name": "CASP-8",
                    "type": "synonym"
                },
                {
                    "name": "FADD-homologous ICE/CED-3-like protease",
                    "type": "synonym"
                },
                {
                    "name": "FADD-homologous ICE/ced-3-like protease",
                    "type": "synonym"
                },
                {
                    "name": "FADD-like ICE",
                    "type": "synonym"
                },
                {
                    "name": "FLICE",
                    "type": "synonym"
                },
                {
                    "name": "ICE-like apoptotic protease 5",
                    "type": "synonym"
                },
                {
                    "name": "MACH-alpha-1/2/3 protein",
                    "type": "synonym"
                },
                {
                    "name": "MACH-beta-1/2/3/4 protein",
                    "type": "synonym"
                },
                {
                    "name": "MACH",
                    "type": "synonym"
                },
                {
                    "name": "MORT1-associated ced-3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "apoptotic cysteine protease",
                    "type": "synonym"
                },
                {
                    "name": "apoptotic protease Mch-5",
                    "type": "synonym"
                },
                {
                    "name": "caspase 8, apoptosis-related cysteine peptidase",
                    "type": "synonym"
                },
                {
                    "name": "caspase 8, apoptosis-related cysteine protease",
                    "type": "synonym"
                },
                {
                    "name": "caspase-8 isoform 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CASP8",
                    "type": "recommended"
                },
                {
                    "name": "ALPS2B",
                    "type": "synonym"
                },
                {
                    "name": "CAP4",
                    "type": "synonym"
                },
                {
                    "name": "CASP8",
                    "type": "synonym"
                },
                {
                    "name": "Casp-8",
                    "type": "synonym"
                },
                {
                    "name": "FLICE",
                    "type": "synonym"
                },
                {
                    "name": "MACH",
                    "type": "synonym"
                },
                {
                    "name": "MCH5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14790-1",
            "evidence": [
                {
                    "id": "607271",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607271"
                },
                {
                    "id": "0110116",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110116"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JHX4-1",
            "uniprot_ac": "Q9JHX4",
            "uniprot_id": "CASP8_RAT",
            "refseq_ac": "NP_071613",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Caspase-8",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.61",
                    "type": "synonym"
                },
                {
                    "name": "CASP-8",
                    "type": "synonym"
                },
                {
                    "name": "caspase-8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Casp8",
                    "type": "recommended"
                },
                {
                    "name": "CASP-8",
                    "type": "synonym"
                },
                {
                    "name": "Casp8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JHX4-1",
            "evidence": [
                {
                    "id": "0110116",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110116"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110116"
}