{
    "disease_id": "DOID:0060759",
    "recommended_name": {
        "id": "DOID:0060759",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060759",
        "name": "immunodeficiency with hyper IgM type 5",
        "description": "A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1."
    },
    "synonyms": [
        {
            "id": "DOID:0060759",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060759",
            "name": "HIGM5",
            "description": ""
        },
        {
            "id": "DOID:0060759",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060759",
            "name": "hyper-IgM syndrome 5",
            "description": ""
        },
        {
            "id": "DOID:0060759",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060759",
            "name": "hyper-IgM syndrome due to UNG deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060759",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060759",
            "name": "hyper-IgM syndrome due to uracil N-glycosylase",
            "description": ""
        },
        {
            "id": "MONDO:0011971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011971",
            "name": "hyper-IgM syndrome type 5",
            "description": "Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene."
        },
        {
            "id": "MONDO:0011971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011971",
            "name": "HIGM5",
            "description": ""
        },
        {
            "id": "MONDO:0011971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011971",
            "name": "UNG hyper-IgM syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011971",
            "name": "hyper-IgM syndrome 5",
            "description": ""
        },
        {
            "id": "MONDO:0011971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011971",
            "name": "hyper-IgM syndrome caused by mutation in UNG",
            "description": ""
        },
        {
            "id": "MONDO:0011971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011971",
            "name": "hyper-IgM syndrome due to UNG deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011971",
            "name": "hyper-IgM syndrome due to uracil N-glycosylase",
            "description": ""
        },
        {
            "id": "MONDO:0011971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011971",
            "name": "hyper-IgM syndrome type 5",
            "description": ""
        },
        {
            "id": "MONDO:0011971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011971",
            "name": "immunodeficiency with hyper IgM, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0011971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011971",
            "name": "hyper IgM syndrome 5",
            "description": ""
        },
        {
            "id": "MONDO:0011971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011971",
            "name": "immunodeficiency with hyper-IgM, type 5",
            "description": ""
        },
        {
            "id": "MIM:608106",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608106",
            "name": "Immunodeficiency with hyper-IgM 5",
            "description": "Immunodeficiency with hyper-IgM 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060759"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060759",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060759",
            "categories": []
        },
        {
            "id": "MONDO:0011971",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011971",
            "categories": []
        },
        {
            "id": "MIM:608106",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608106",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P97931-1",
            "uniprot_ac": "P97931",
            "uniprot_id": "UNG_MOUSE",
            "refseq_ac": "NP_001035781",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uracil-DNA glycosylase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.2.27",
                    "type": "synonym"
                },
                {
                    "name": "UDG",
                    "type": "synonym"
                },
                {
                    "name": "uracil-DNA glycosylase isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ung",
                    "type": "recommended"
                },
                {
                    "name": "UNG1",
                    "type": "synonym"
                },
                {
                    "name": "UNG2",
                    "type": "synonym"
                },
                {
                    "name": "UNG",
                    "type": "synonym"
                },
                {
                    "name": "Ung1",
                    "type": "synonym"
                },
                {
                    "name": "Ung",
                    "type": "synonym"
                }
            ],
            "record_id": "P97931-1",
            "evidence": [
                {
                    "id": "0060759",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060759"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13051-1",
            "uniprot_ac": "P13051",
            "uniprot_id": "UNG_HUMAN",
            "refseq_ac": "NP_003353",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uracil-DNA glycosylase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.2.27",
                    "type": "synonym"
                },
                {
                    "name": "UDG",
                    "type": "synonym"
                },
                {
                    "name": "uracil-DNA glycosylase 1, uracil-DNA glycosylase 2",
                    "type": "synonym"
                },
                {
                    "name": "uracil-DNA glycosylase isoform UNG1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UNG",
                    "type": "recommended"
                },
                {
                    "name": "DGU",
                    "type": "synonym"
                },
                {
                    "name": "HIGM4",
                    "type": "synonym"
                },
                {
                    "name": "HIGM5",
                    "type": "synonym"
                },
                {
                    "name": "UDG",
                    "type": "synonym"
                },
                {
                    "name": "UNG15",
                    "type": "synonym"
                },
                {
                    "name": "UNG1",
                    "type": "synonym"
                },
                {
                    "name": "UNG2",
                    "type": "synonym"
                },
                {
                    "name": "UNG",
                    "type": "synonym"
                }
            ],
            "record_id": "P13051-1",
            "evidence": [
                {
                    "id": "608106",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608106"
                },
                {
                    "id": "0060759",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060759"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12887-1",
            "uniprot_ac": "P12887",
            "uniprot_id": "UNG_YEAST",
            "refseq_ac": "NP_013691",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uracil-DNA glycosylase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.2.27",
                    "type": "synonym"
                },
                {
                    "name": "UDG",
                    "type": "synonym"
                },
                {
                    "name": "uracil-DNA glycosylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UNG1",
                    "type": "recommended"
                },
                {
                    "name": "UNG1",
                    "type": "synonym"
                }
            ],
            "record_id": "P12887-1",
            "evidence": [
                {
                    "id": "0060759",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060759"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8J8YLI4-1",
            "uniprot_ac": "A0A8J8YLI4",
            "uniprot_id": "A0A8J8YLI4_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uracil-DNA glycosylase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.2.27",
                    "type": "synonym"
                },
                {
                    "name": "UDG",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ung",
                    "type": "recommended"
                },
                {
                    "name": "UNG1",
                    "type": "synonym"
                },
                {
                    "name": "UNG",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8J8YLI4-1",
            "evidence": [
                {
                    "id": "0060759",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060759"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060759"
}