{
    "disease_id": "DOID:0081144",
    "recommended_name": {
        "id": "DOID:0081144",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081144",
        "name": "common variable immunodeficiency 1",
        "description": "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the ICOS gene on chromosome 2q33."
    },
    "synonyms": [
        {
            "id": "MONDO:0011864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011864",
            "name": "immunodeficiency, common variable, 1",
            "description": ""
        },
        {
            "id": "MONDO:0011864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011864",
            "name": "immunodeficiency, common variable, 1",
            "description": ""
        },
        {
            "id": "MONDO:0011864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011864",
            "name": "immunodeficiency, common variable, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011864",
            "name": "CVID1",
            "description": ""
        },
        {
            "id": "MIM:607594",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607594",
            "name": "Immunodeficiency, common variable, 1",
            "description": "Immunodeficiency, common variable, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081144"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081144",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081144",
            "categories": []
        },
        {
            "id": "MONDO:0011864",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011864",
            "categories": []
        },
        {
            "id": "MIM:607594",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607594",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9WVS0-1",
            "uniprot_ac": "Q9WVS0",
            "uniprot_id": "ICOS_MOUSE",
            "refseq_ac": "NP_059508",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inducible T-cell costimulator",
                    "type": "recommended"
                },
                {
                    "name": "Activation-inducible lymphocyte immunomediatory molecule",
                    "type": "synonym"
                },
                {
                    "name": "CCLP",
                    "type": "synonym"
                },
                {
                    "name": "CD28 and CTLA-4-like protein",
                    "type": "synonym"
                },
                {
                    "name": "CD28-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "CRP-1",
                    "type": "synonym"
                },
                {
                    "name": "activation-inducible lymphocyte immunomediatory molecule",
                    "type": "synonym"
                },
                {
                    "name": "inducible T-cell costimulator precursor",
                    "type": "synonym"
                },
                {
                    "name": "inducible T-cell costimulator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Icos",
                    "type": "recommended"
                },
                {
                    "name": "AILIM",
                    "type": "synonym"
                },
                {
                    "name": "Ailim",
                    "type": "synonym"
                },
                {
                    "name": "CCLP",
                    "type": "synonym"
                },
                {
                    "name": "CRP-1",
                    "type": "synonym"
                },
                {
                    "name": "H4",
                    "type": "synonym"
                },
                {
                    "name": "Icos",
                    "type": "synonym"
                },
                {
                    "name": "Ly115",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WVS0-1",
            "evidence": [
                {
                    "id": "0081144",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081144"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y6W8-1",
            "uniprot_ac": "Q9Y6W8",
            "uniprot_id": "ICOS_HUMAN",
            "refseq_ac": "NP_036224",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inducible T-cell costimulator",
                    "type": "recommended"
                },
                {
                    "name": "Activation-inducible lymphocyte immunomediatory molecule",
                    "type": "synonym"
                },
                {
                    "name": "activation-inducible lymphocyte immunomediatory molecule",
                    "type": "synonym"
                },
                {
                    "name": "inducible T-cell co-stimulator",
                    "type": "synonym"
                },
                {
                    "name": "inducible T-cell costimulator precursor",
                    "type": "synonym"
                },
                {
                    "name": "inducible costimulator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ICOS",
                    "type": "recommended"
                },
                {
                    "name": "AILIM",
                    "type": "synonym"
                },
                {
                    "name": "CD278",
                    "type": "synonym"
                },
                {
                    "name": "CVID1",
                    "type": "synonym"
                },
                {
                    "name": "ICOS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y6W8-1",
            "evidence": [
                {
                    "id": "607594",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607594"
                },
                {
                    "id": "0081144",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081144"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R1T7-1",
            "uniprot_ac": "Q9R1T7",
            "uniprot_id": "ICOS_RAT",
            "refseq_ac": "NP_072132",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inducible T-cell costimulator",
                    "type": "recommended"
                },
                {
                    "name": "Activation-inducible lymphocyte immunomediatory molecule",
                    "type": "synonym"
                },
                {
                    "name": "activation-inducible lymphocyte immunomediatory molecule",
                    "type": "synonym"
                },
                {
                    "name": "inducible T-cell costimulator isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "inducible T-cell costimulator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Icos",
                    "type": "recommended"
                },
                {
                    "name": "Ailim",
                    "type": "synonym"
                },
                {
                    "name": "Icos",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R1T7-1",
            "evidence": [
                {
                    "id": "0081144",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081144"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081144"
}