{
    "disease_id": "DOID:0110751",
    "recommended_name": {
        "id": "DOID:0110751",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110751",
        "name": "type 1 diabetes mellitus 12",
        "description": "A type 1 diabetes mellitus that has_material_basis_in mutation of the CTLA4 gene on chromosome 2q33.2."
    },
    "synonyms": [
        {
            "id": "DOID:0110751",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110751",
            "name": "IDDM12",
            "description": ""
        },
        {
            "id": "DOID:0110751",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110751",
            "name": "Insulin-Dependent Diabetes Mellitus 12",
            "description": ""
        },
        {
            "id": "MONDO:0011068",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011068",
            "name": "type 1 diabetes mellitus 12",
            "description": "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the CTLA4 gene."
        },
        {
            "id": "MONDO:0011068",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011068",
            "name": "CTLA4 type 1 diabetes mellitus",
            "description": ""
        },
        {
            "id": "MONDO:0011068",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011068",
            "name": "IDDM12",
            "description": ""
        },
        {
            "id": "MONDO:0011068",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011068",
            "name": "diabetes mellitus, insulin-dependent, type 12",
            "description": ""
        },
        {
            "id": "MONDO:0011068",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011068",
            "name": "insulin-dependent diabetes mellitus 12",
            "description": ""
        },
        {
            "id": "MONDO:0011068",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011068",
            "name": "type 1 diabetes mellitus caused by mutation in CTLA4",
            "description": ""
        },
        {
            "id": "MONDO:0011068",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011068",
            "name": "diabetes mellitus, insulin-dependent, 12",
            "description": ""
        },
        {
            "id": "MIM:601388",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601388",
            "name": "Type 1 diabetes mellitus 12",
            "description": "Type 1 diabetes mellitus 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110751"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110751",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110751",
            "categories": []
        },
        {
            "id": "MONDO:0011068",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011068",
            "categories": []
        },
        {
            "id": "MIM:601388",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601388",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P09793-1",
            "uniprot_ac": "P09793",
            "uniprot_id": "CTLA4_MOUSE",
            "refseq_ac": "NP_033973",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytotoxic T-lymphocyte protein 4",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CTLA-4",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Cytotoxic T-lymphocyte-associated antigen 4",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "cytotoxic T-lymphocyte protein 4 isoform 1 precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "cytotoxic T-lymphocyte protein 4; cytotoxic T-lymphocyte-associated antigen 4; CD152 antigen",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctla4",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CH29-120A16.2-001",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CH29-120A16.2-002",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Cd152; Ctla-4; Ly-56",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Cd152",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ctla4",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0110751",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110751"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16410-1",
            "uniprot_ac": "P16410",
            "uniprot_id": "CTLA4_HUMAN",
            "refseq_ac": "NP_001032720",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytotoxic T-lymphocyte protein 4",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CTLA-4",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Cytotoxic T-lymphocyte-associated antigen 4",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "celiac disease 3; cytotoxic T-lymphocyte-associated serine esterase-4; ligand and transmembrane spliced cytotoxic T lymphocyte associated antigen 4; insulin-dependent diabetes mellitus 12; cytotoxic T lymphocyte associated antigen 4 short spliced form; gluten-sensitive enteropathy",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "cytotoxic T-lymphocyte protein 4 isoform CTLA-4delTM precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CTLA4",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ALPS5; CD; CD152; CELIAC3; CTLA-4; GRD4; GSE; IDDM12",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CD152",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CTLA4",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0110751",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110751"
                },
                {
                    "id": "601388",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601388"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A096MJE4-1",
            "uniprot_ac": "A0A096MJE4",
            "uniprot_id": "A0A096MJE4_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytotoxic T-lymphocyte protein 4",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Cytotoxic T-lymphocyte-associated antigen 4",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctla4",
                    "resource": "UniProtKB",
                    "type": "recommended"
                }
            ],
            "evidence": [
                {
                    "id": "0110751",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110751"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62696-1",
            "uniprot_ac": "Q62696",
            "uniprot_id": "DLG1_RAT",
            "refseq_ac": "NP_036920",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Disks large homolog 1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "SAP-97",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "SAP97",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Synapse-associated protein 97",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "disks large homolog 1 isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "disks large homolog 1; synapse-associated protein 97; discs large homolog 1, scribble cell polarity complex component; Drosophila discs-large tumor suppressor homologue (synapse associated protein); discs, large homolog 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dlg1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Dlg1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Dlgh1; SAP97",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Dlgh1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0110751",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110751"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110751"
}