{
    "disease_id": "DOID:0061088",
    "recommended_name": {
        "id": "DOID:0061088",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061088",
        "name": "immunodeficiency 122",
        "description": "A T cell, B cell, and NK cell deficiency that is characterized by early-infantile onset of recurrent viral and bacterial infections of the respiratory tract and skin and that has_material_basis_in homozygous mutation in the POLD3 gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0971151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0971151",
            "name": "immunodeficiency 122",
            "description": ""
        },
        {
            "id": "MIM:620869",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620869",
            "name": "Immunodeficiency 122",
            "description": "Immunodeficiency 122"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061088"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061088",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061088",
            "categories": []
        },
        {
            "id": "MONDO:0971151",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0971151",
            "categories": []
        },
        {
            "id": "MIM:620869",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620869",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1N920-1",
            "uniprot_ac": "A0A8M1N920",
            "uniprot_id": "A0A8M1N920_DANRE",
            "refseq_ac": "NP_001036234",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA polymerase delta subunit 3",
                    "type": "recommended"
                },
                {
                    "name": "DNA polymerase delta subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase delta subunit p66",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pold3",
                    "type": "recommended"
                },
                {
                    "name": "pold3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136471",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N920-1",
            "evidence": [
                {
                    "id": "0061088",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061088"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EQ28-1",
            "uniprot_ac": "Q9EQ28",
            "uniprot_id": "DPOD3_MOUSE",
            "refseq_ac": "NP_001355309",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA polymerase delta subunit 3",
                    "type": "recommended"
                },
                {
                    "name": "DNA polymerase delta subunit 3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase delta subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase delta subunit p66",
                    "type": "synonym"
                },
                {
                    "name": "GC12",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA directed), delta 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pold3",
                    "type": "recommended"
                },
                {
                    "name": "2410142G14Rik",
                    "type": "synonym"
                },
                {
                    "name": "P66",
                    "type": "synonym"
                },
                {
                    "name": "P68",
                    "type": "synonym"
                },
                {
                    "name": "Pold3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EQ28-1",
            "evidence": [
                {
                    "id": "0061088",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061088"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15054-1",
            "uniprot_ac": "Q15054",
            "uniprot_id": "DPOD3_HUMAN",
            "refseq_ac": "NP_006582",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA polymerase delta subunit 3",
                    "type": "recommended"
                },
                {
                    "name": "DNA polymerase delta subunit 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase delta subunit C",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase delta subunit p66",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase delta subunit p68",
                    "type": "synonym"
                },
                {
                    "name": "Pol delta C subunit (p66)",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA) delta 3, accessory subunit",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA-directed), delta 3, accessory subunit",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 128",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POLD3",
                    "type": "recommended"
                },
                {
                    "name": "IMD122",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0039",
                    "type": "synonym"
                },
                {
                    "name": "P66",
                    "type": "synonym"
                },
                {
                    "name": "P68",
                    "type": "synonym"
                },
                {
                    "name": "POLD3",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R128",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15054-1",
            "evidence": [
                {
                    "id": "620869",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620869"
                },
                {
                    "id": "0061088",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061088"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6G366-1",
            "uniprot_ac": "A0A8I6G366",
            "uniprot_id": "A0A8I6G366_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": "DNA polymerase delta subunit 3",
                    "type": "recommended"
                },
                {
                    "name": "DNA polymerase delta subunit p66",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pold3",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6G366-1",
            "evidence": [
                {
                    "id": "0061088",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061088"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061088"
}