{
    "disease_id": "DOID:0111938",
    "recommended_name": {
        "id": "DOID:0111938",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111938",
        "name": "immunodeficiency 24",
        "description": "A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in the CTPS1 gene on chromosome 1p34.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111938",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111938",
            "name": "severe combined immunodeficiency due to CTPS1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111938",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111938",
            "name": "IMD24",
            "description": ""
        },
        {
            "id": "DOID:0111938",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111938",
            "name": "SCID due to CTPS1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014391",
            "name": "combined immunodeficiency due to CTPS1 deficiency",
            "description": "Rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens."
        },
        {
            "id": "MONDO:0014391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014391",
            "name": "CTPS1-related combined immunodeficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014391",
            "name": "SCID due to CTPS1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014391",
            "name": "immunodeficiency type 24",
            "description": ""
        },
        {
            "id": "MONDO:0014391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014391",
            "name": "IMD24",
            "description": ""
        },
        {
            "id": "MONDO:0014391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014391",
            "name": "immunodeficiency 24",
            "description": ""
        },
        {
            "id": "MIM:615897",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615897",
            "name": "Immunodeficiency 24",
            "description": "Immunodeficiency 24"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111938"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111938",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111938",
            "categories": []
        },
        {
            "id": "MONDO:0014391",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014391",
            "categories": []
        },
        {
            "id": "MIM:615897",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615897",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6PEI7-1",
            "uniprot_ac": "Q6PEI7",
            "uniprot_id": "PYRG1_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "CTP synthase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.-",
                    "type": "synonym"
                },
                {
                    "name": "6.3.4.2",
                    "type": "synonym"
                },
                {
                    "name": "CTP synthetase 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein-asparagine deamidase CTPS1",
                    "type": "synonym"
                },
                {
                    "name": "UTP--ammonia ligase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ctps1a",
                    "type": "recommended"
                },
                {
                    "name": "ctps1",
                    "type": "recommended"
                },
                {
                    "name": "cb1040",
                    "type": "synonym"
                },
                {
                    "name": "ctps1a",
                    "type": "synonym"
                },
                {
                    "name": "ctps1",
                    "type": "synonym"
                },
                {
                    "name": "ctpsa",
                    "type": "synonym"
                },
                {
                    "name": "ctps",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb49e03",
                    "type": "synonym"
                },
                {
                    "name": "wu:fe17b03",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PEI7-1",
            "evidence": [
                {
                    "id": "0111938",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111938"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58HG78-1",
            "uniprot_ac": "A0AC58HG78",
            "uniprot_id": "A0AC58HG78_DANRE",
            "refseq_ac": "XP_073780993",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "CTP synthase",
                    "type": "recommended"
                },
                {
                    "name": "6.3.4.2",
                    "type": "synonym"
                },
                {
                    "name": "CTP synthase 1b isoform X2",
                    "type": "synonym"
                },
                {
                    "name": "UTP--ammonia ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ctps1b",
                    "type": "recommended"
                },
                {
                    "name": "ctps1b",
                    "type": "synonym"
                },
                {
                    "name": "ctpsb",
                    "type": "synonym"
                },
                {
                    "name": "zgc:100914",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58HG78-1",
            "evidence": [
                {
                    "id": "0111938",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111938"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70698-1",
            "uniprot_ac": "P70698",
            "uniprot_id": "PYRG1_MOUSE",
            "refseq_ac": "NP_058028",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "CTP synthase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.-",
                    "type": "synonym"
                },
                {
                    "name": "6.3.4.2",
                    "type": "synonym"
                },
                {
                    "name": "CTP synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "CTP synthetase 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein-asparagine deamidase CTPS1",
                    "type": "synonym"
                },
                {
                    "name": "UTP--ammonia ligase 1",
                    "type": "synonym"
                },
                {
                    "name": "protein-asparagine deamidase CTPS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctps1",
                    "type": "recommended"
                },
                {
                    "name": "Ctps1",
                    "type": "synonym"
                },
                {
                    "name": "Ctps",
                    "type": "synonym"
                }
            ],
            "record_id": "P70698-1",
            "evidence": [
                {
                    "id": "0111938",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111938"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17812-1",
            "uniprot_ac": "P17812",
            "uniprot_id": "PYRG1_HUMAN",
            "refseq_ac": "NP_001288166",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "CTP synthase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.-",
                    "type": "synonym"
                },
                {
                    "name": "6.3.4.2",
                    "type": "synonym"
                },
                {
                    "name": "CTP synthase 1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "CTP synthetase 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein-asparagine deamidase CTPS1",
                    "type": "synonym"
                },
                {
                    "name": "UTP--ammonia ligase 1",
                    "type": "synonym"
                },
                {
                    "name": "cytidine 5'-triphosphate synthetase",
                    "type": "synonym"
                },
                {
                    "name": "cytidine 5-prime triphosphate synthetase",
                    "type": "synonym"
                },
                {
                    "name": "protein-asparagine deamidase CTPS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CTPS1",
                    "type": "recommended"
                },
                {
                    "name": "CTPS1",
                    "type": "synonym"
                },
                {
                    "name": "CTPS",
                    "type": "synonym"
                },
                {
                    "name": "GATD5A",
                    "type": "synonym"
                },
                {
                    "name": "GATD5",
                    "type": "synonym"
                },
                {
                    "name": "IMD24",
                    "type": "synonym"
                }
            ],
            "record_id": "P17812-1",
            "evidence": [
                {
                    "id": "615897",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615897"
                },
                {
                    "id": "0111938",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111938"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28274-1",
            "uniprot_ac": "P28274",
            "uniprot_id": "URA7_YEAST",
            "refseq_ac": "NP_009514",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "CTP synthase 1",
                    "type": "recommended"
                },
                {
                    "name": "6.3.4.2",
                    "type": "synonym"
                },
                {
                    "name": "CTP synthase URA7",
                    "type": "synonym"
                },
                {
                    "name": "CTP synthetase 1",
                    "type": "synonym"
                },
                {
                    "name": "UTP--ammonia ligase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "URA7",
                    "type": "recommended"
                },
                {
                    "name": "URA7",
                    "type": "synonym"
                },
                {
                    "name": "YBL0410",
                    "type": "synonym"
                }
            ],
            "record_id": "P28274-1",
            "evidence": [
                {
                    "id": "0111938",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111938"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38627-1",
            "uniprot_ac": "P38627",
            "uniprot_id": "URA8_YEAST",
            "refseq_ac": "NP_012637",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "CTP synthase 2",
                    "type": "recommended"
                },
                {
                    "name": "6.3.4.2",
                    "type": "synonym"
                },
                {
                    "name": "CTP synthase URA8",
                    "type": "synonym"
                },
                {
                    "name": "CTP synthetase 2",
                    "type": "synonym"
                },
                {
                    "name": "UTP--ammonia ligase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "URA8",
                    "type": "recommended"
                },
                {
                    "name": "J1962",
                    "type": "synonym"
                },
                {
                    "name": "URA8",
                    "type": "synonym"
                }
            ],
            "record_id": "P38627-1",
            "evidence": [
                {
                    "id": "0111938",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111938"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7F0L0-1",
            "uniprot_ac": "F7F0L0",
            "uniprot_id": "F7F0L0_RAT",
            "refseq_ac": "NP_001128345",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "CTP synthase",
                    "type": "recommended"
                },
                {
                    "name": "6.3.4.2",
                    "type": "synonym"
                },
                {
                    "name": "CTP synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "UTP--ammonia ligase",
                    "type": "synonym"
                },
                {
                    "name": "cytidine 5'-triphosphate synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctps1",
                    "type": "recommended"
                },
                {
                    "name": "Ctps1",
                    "type": "synonym"
                },
                {
                    "name": "Ctps",
                    "type": "synonym"
                }
            ],
            "record_id": "F7F0L0-1",
            "evidence": [
                {
                    "id": "0111938",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111938"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VUL1-1",
            "uniprot_ac": "Q9VUL1",
            "uniprot_id": "PYRG_DROME",
            "refseq_ac": "NP_001287067",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CTP synthase",
                    "type": "recommended"
                },
                {
                    "name": "6.3.4.2",
                    "type": "synonym"
                },
                {
                    "name": "CG45070-PC",
                    "type": "synonym"
                },
                {
                    "name": "CTP synthase, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "CTP synthetase",
                    "type": "synonym"
                },
                {
                    "name": "CTP-synthase",
                    "type": "synonym"
                },
                {
                    "name": "Ctps-PC",
                    "type": "synonym"
                },
                {
                    "name": "UTP--ammonia ligase",
                    "type": "synonym"
                },
                {
                    "name": "ctp synthase",
                    "type": "synonym"
                },
                {
                    "name": "cytidine synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctps",
                    "type": "recommended"
                },
                {
                    "name": "CG45070",
                    "type": "synonym"
                },
                {
                    "name": "CG6854",
                    "type": "synonym"
                },
                {
                    "name": "CTP syn",
                    "type": "synonym"
                },
                {
                    "name": "CTPSyn",
                    "type": "synonym"
                },
                {
                    "name": "CTPS",
                    "type": "synonym"
                },
                {
                    "name": "CTPsyn",
                    "type": "synonym"
                },
                {
                    "name": "Ctps",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG45070",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG45070",
                    "type": "synonym"
                },
                {
                    "name": "ctps",
                    "type": "synonym"
                },
                {
                    "name": "dCTPS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VUL1-1",
            "evidence": [
                {
                    "id": "0111938",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111938"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111938"
}