{
    "disease_id": "DOID:0060758",
    "recommended_name": {
        "id": "DOID:0060758",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060758",
        "name": "immunodeficiency with hyper-IgM type 2",
        "description": "A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13."
    },
    "synonyms": [
        {
            "id": "DOID:0060758",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060758",
            "name": "AID deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060758",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060758",
            "name": "HIGM2",
            "description": ""
        },
        {
            "id": "DOID:0060758",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060758",
            "name": "activation-induced cytidine deaminase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060758",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060758",
            "name": "hyper-IgM syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011528",
            "name": "hyper-IgM syndrome type 2",
            "description": "A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers."
        },
        {
            "id": "MONDO:0011528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011528",
            "name": "AICDA hyper-IgM syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011528",
            "name": "Activation-induced cytidine deaminase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011528",
            "name": "HIGM2",
            "description": ""
        },
        {
            "id": "MONDO:0011528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011528",
            "name": "activation-induced cytidine deaminase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011528",
            "name": "aid deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011528",
            "name": "hyper-IgM syndrome caused by mutation in AICDA",
            "description": ""
        },
        {
            "id": "MONDO:0011528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011528",
            "name": "hyper-IgM syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011528",
            "name": "hyper IgM syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0011528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011528",
            "name": "immunodeficiency with hyper IgM type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011528",
            "name": "immunodeficiency with hyper-IgM, type 2",
            "description": ""
        },
        {
            "id": "MIM:605258",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605258",
            "name": "Immunodeficiency with hyper-IgM 2",
            "description": "Immunodeficiency with hyper-IgM 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060758"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060758",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060758",
            "categories": []
        },
        {
            "id": "MONDO:0011528",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011528",
            "categories": []
        },
        {
            "id": "MIM:605258",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605258",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9WVE0-1",
            "uniprot_ac": "Q9WVE0",
            "uniprot_id": "AICDA_MOUSE",
            "refseq_ac": "NP_033775",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Single-stranded DNA cytosine deaminase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.4.38",
                    "type": "synonym"
                },
                {
                    "name": "AID",
                    "type": "synonym"
                },
                {
                    "name": "Activation-induced cytidine deaminase",
                    "type": "synonym"
                },
                {
                    "name": "Cytidine aminohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "activation induced deaminase",
                    "type": "synonym"
                },
                {
                    "name": "cytidine aminohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "single-stranded DNA cytosine deaminase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aicda",
                    "type": "recommended"
                },
                {
                    "name": "Aicda",
                    "type": "synonym"
                },
                {
                    "name": "Aid",
                    "type": "synonym"
                },
                {
                    "name": "Arp2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WVE0-1",
            "evidence": [
                {
                    "id": "0060758",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060758"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9GZX7-1",
            "uniprot_ac": "Q9GZX7",
            "uniprot_id": "AICDA_HUMAN",
            "refseq_ac": "NP_001317272",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Single-stranded DNA cytosine deaminase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.4.38",
                    "type": "synonym"
                },
                {
                    "name": "AID",
                    "type": "synonym"
                },
                {
                    "name": "Activation-induced cytidine deaminase",
                    "type": "synonym"
                },
                {
                    "name": "Cytidine aminohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "cytidine aminohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory protein Li 284",
                    "type": "synonym"
                },
                {
                    "name": "integrated into Burkitt's lymphoma cell line Ramos",
                    "type": "synonym"
                },
                {
                    "name": "single-stranded DNA cytosine deaminase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "single-stranded DNA cytosine deaminase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AICDA",
                    "type": "recommended"
                },
                {
                    "name": "AICDA",
                    "type": "synonym"
                },
                {
                    "name": "AID",
                    "type": "synonym"
                },
                {
                    "name": "ARP2",
                    "type": "synonym"
                },
                {
                    "name": "CDA2",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-284",
                    "type": "synonym"
                },
                {
                    "name": "HIGM2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9GZX7-1",
            "evidence": [
                {
                    "id": "605258",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/605258"
                },
                {
                    "id": "0060758",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060758"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V7Y8-1",
            "uniprot_ac": "G3V7Y8",
            "uniprot_id": "G3V7Y8_RAT",
            "refseq_ac": "NP_001094249",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Single-stranded DNA cytosine deaminase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.4.38",
                    "type": "synonym"
                },
                {
                    "name": "Activation-induced cytidine deaminase",
                    "type": "synonym"
                },
                {
                    "name": "Cytidine aminohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "single-stranded DNA cytosine deaminase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aicda",
                    "type": "recommended"
                },
                {
                    "name": "Aicda",
                    "type": "synonym"
                },
                {
                    "name": "aicda",
                    "type": "synonym"
                },
                {
                    "name": "aid",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V7Y8-1",
            "evidence": [
                {
                    "id": "0060758",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060758"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060758"
}