{
    "disease_id": "DOID:0110115",
    "recommended_name": {
        "id": "DOID:0110115",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110115",
        "name": "autoimmune lymphoproliferative syndrome type 2A",
        "description": "An autoimmune lymphoproliferative syndrome that has_material_basis_in mutation in the CASP10 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0110115",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110115",
            "name": "ALPS2A",
            "description": ""
        },
        {
            "id": "DOID:0110115",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110115",
            "name": "autoimmune lymphoproliferative syndrome type IIA",
            "description": ""
        },
        {
            "id": "MONDO:0011383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011383",
            "name": "autoimmune lymphoproliferative syndrome type 2A",
            "description": "A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma."
        },
        {
            "id": "MONDO:0011383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011383",
            "name": "ALPS-CASP10",
            "description": ""
        },
        {
            "id": "MONDO:0011383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011383",
            "name": "ALPS2A",
            "description": ""
        },
        {
            "id": "MONDO:0011383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011383",
            "name": "CASP10 autoimmune lymphoproliferative syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011383",
            "name": "autoimmune lymphoproliferative syndrome caused by mutation in CASP10",
            "description": ""
        },
        {
            "id": "MONDO:0011383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011383",
            "name": "autoimmune lymphoproliferative syndrome, type II",
            "description": ""
        },
        {
            "id": "MONDO:0011383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011383",
            "name": "autoimmune lymphoproliferative syndrome-CASP10 variant",
            "description": ""
        },
        {
            "id": "MONDO:0011383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011383",
            "name": "type 2 ALPS",
            "description": ""
        },
        {
            "id": "MONDO:0011383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011383",
            "name": "type 2 autoimmune lymphoproliferative syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011383",
            "name": "autoimmune lymphoproliferative syndrome, type IIA",
            "description": ""
        },
        {
            "id": "MIM:603909",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603909",
            "name": "Autoimmune lymphoproliferative syndrome 2A",
            "description": "Autoimmune lymphoproliferative syndrome 2A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110115"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110115",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110115",
            "categories": []
        },
        {
            "id": "MONDO:0011383",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011383",
            "categories": []
        },
        {
            "id": "MIM:603909",
            "database": "MIM",
            "url": "https://www.omim.org/entry/603909",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7EXV8-1",
            "uniprot_ac": "E7EXV8",
            "uniprot_id": "E7EXV8_DANRE",
            "refseq_ac": "XP_685430",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Caspase-8",
                    "type": "synonym"
                },
                {
                    "name": "caspase-8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "casp10",
                    "type": "recommended"
                },
                {
                    "name": "casp10",
                    "type": "synonym"
                }
            ],
            "record_id": "E7EXV8-1",
            "evidence": [
                {
                    "id": "0110115",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110115"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92851-1",
            "uniprot_ac": "Q92851",
            "uniprot_id": "CASPA_HUMAN",
            "refseq_ac": "NP_001193453",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Caspase-10",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.63",
                    "type": "synonym"
                },
                {
                    "name": "Apoptotic protease Mch-4",
                    "type": "synonym"
                },
                {
                    "name": "CASP-10",
                    "type": "synonym"
                },
                {
                    "name": "FADD-like ICE2",
                    "type": "synonym"
                },
                {
                    "name": "FAS-associated death domain protein interleukin-1B-converting enzyme 2",
                    "type": "synonym"
                },
                {
                    "name": "FLICE2",
                    "type": "synonym"
                },
                {
                    "name": "ICE-like apoptotic protease 4",
                    "type": "synonym"
                },
                {
                    "name": "apoptotic protease MCH-4",
                    "type": "synonym"
                },
                {
                    "name": "caspase 10 apoptosis-related cysteine peptidase",
                    "type": "synonym"
                },
                {
                    "name": "caspase 10, apoptosis-related cysteine protease",
                    "type": "synonym"
                },
                {
                    "name": "caspase-10 isoform 6 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-1B-converting enzyme 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CASP10",
                    "type": "recommended"
                },
                {
                    "name": "ALPS2",
                    "type": "synonym"
                },
                {
                    "name": "CASP10",
                    "type": "synonym"
                },
                {
                    "name": "FLICE-2",
                    "type": "synonym"
                },
                {
                    "name": "FLICE2",
                    "type": "synonym"
                },
                {
                    "name": "MCH4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92851-1",
            "evidence": [
                {
                    "id": "603909",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/603909"
                },
                {
                    "id": "0110115",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110115"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IRY7-1",
            "uniprot_ac": "Q8IRY7",
            "uniprot_id": "CASP8_DROME",
            "refseq_ac": "NP_477249",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Caspase-8",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.61",
                    "type": "synonym"
                },
                {
                    "name": "CG7486-PE",
                    "type": "synonym"
                },
                {
                    "name": "Ced-3-like/Nedd2-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Death-related ced-3/NEDD2-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Dredd-PE",
                    "type": "synonym"
                },
                {
                    "name": "death caspase-2",
                    "type": "synonym"
                },
                {
                    "name": "death related ced-3/Nedd2-like caspase, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "death related ced-3/Nedd2-like protein",
                    "type": "synonym"
                },
                {
                    "name": "death-related ced-3/neural precursor cell expressed developmentally downregulated 2 (NEDD2)-like protein",
                    "type": "synonym"
                },
                {
                    "name": "drosophila caspase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dredd",
                    "type": "recommended"
                },
                {
                    "name": "CASP8_DROME",
                    "type": "synonym"
                },
                {
                    "name": "CG7486",
                    "type": "synonym"
                },
                {
                    "name": "DCP-2/DREDD",
                    "type": "synonym"
                },
                {
                    "name": "DCP-2",
                    "type": "synonym"
                },
                {
                    "name": "DCP2",
                    "type": "synonym"
                },
                {
                    "name": "DREDD",
                    "type": "synonym"
                },
                {
                    "name": "Dcp-2/Dredd",
                    "type": "synonym"
                },
                {
                    "name": "Dcp-2",
                    "type": "synonym"
                },
                {
                    "name": "Dcp2",
                    "type": "synonym"
                },
                {
                    "name": "Dedd",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7486",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7486",
                    "type": "synonym"
                },
                {
                    "name": "Dredd/DCP-2",
                    "type": "synonym"
                },
                {
                    "name": "Dredd",
                    "type": "synonym"
                },
                {
                    "name": "EG:115C2.9",
                    "type": "synonym"
                },
                {
                    "name": "Redd",
                    "type": "synonym"
                },
                {
                    "name": "anon-1BCa",
                    "type": "synonym"
                },
                {
                    "name": "dDredd",
                    "type": "synonym"
                },
                {
                    "name": "dcp-2/dredd",
                    "type": "synonym"
                },
                {
                    "name": "dredd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IRY7-1",
            "evidence": [
                {
                    "id": "0110115",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110115"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110115"
}