{
    "disease_id": "DOID:0061086",
    "recommended_name": {
        "id": "DOID:0061086",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061086",
        "name": "immunodeficiency 120",
        "description": "A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the POLD1 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0970994",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0970994",
            "name": "immunodeficiency 120",
            "description": ""
        },
        {
            "id": "MIM:620836",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620836",
            "name": "Immunodeficiency 120",
            "description": "Immunodeficiency 120"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061086"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061086",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061086",
            "categories": []
        },
        {
            "id": "MONDO:0970994",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0970994",
            "categories": []
        },
        {
            "id": "MIM:620836",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620836",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P52431-1",
            "uniprot_ac": "P52431",
            "uniprot_id": "DPOD1_MOUSE",
            "refseq_ac": "NP_035261",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA polymerase delta catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.7",
                    "type": "synonym"
                },
                {
                    "name": "3'-5' exodeoxyribonuclease",
                    "type": "synonym"
                },
                {
                    "name": "3.1.11.-",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase delta 1, catalytic domain",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase delta catalytic subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pold1",
                    "type": "recommended"
                },
                {
                    "name": "125kDa",
                    "type": "synonym"
                },
                {
                    "name": "Pold1",
                    "type": "synonym"
                }
            ],
            "record_id": "P52431-1",
            "evidence": [
                {
                    "id": "0061086",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061086"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28340-1",
            "uniprot_ac": "P28340",
            "uniprot_id": "DPOD1_HUMAN",
            "refseq_ac": "NP_001243778",
            "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 catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.7",
                    "type": "synonym"
                },
                {
                    "name": "3'-5' exodeoxyribonuclease",
                    "type": "synonym"
                },
                {
                    "name": "3.1.11.-",
                    "type": "synonym"
                },
                {
                    "name": "CDC2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase delta catalytic subunit isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase subunit delta p125",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA directed), delta 1, catalytic subunit 125kDa",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA) delta 1, catalytic subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POLD1",
                    "type": "recommended"
                },
                {
                    "name": "CDC2",
                    "type": "synonym"
                },
                {
                    "name": "CRCS10",
                    "type": "synonym"
                },
                {
                    "name": "IMD120",
                    "type": "synonym"
                },
                {
                    "name": "MDPL",
                    "type": "synonym"
                },
                {
                    "name": "POLD1",
                    "type": "synonym"
                },
                {
                    "name": "POLD",
                    "type": "synonym"
                }
            ],
            "record_id": "P28340-1",
            "evidence": [
                {
                    "id": "620836",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620836"
                },
                {
                    "id": "0061086",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061086"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15436-1",
            "uniprot_ac": "P15436",
            "uniprot_id": "DPOD_YEAST",
            "refseq_ac": "NP_010181",
            "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": "DNA polymerase delta catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.7",
                    "type": "synonym"
                },
                {
                    "name": "3'-5' exodeoxyribonuclease",
                    "type": "synonym"
                },
                {
                    "name": "3.1.11.-",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase III",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed DNA polymerase delta POL3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POL3",
                    "type": "recommended"
                },
                {
                    "name": "CDC2",
                    "type": "synonym"
                },
                {
                    "name": "D2366",
                    "type": "synonym"
                },
                {
                    "name": "HPR6",
                    "type": "synonym"
                },
                {
                    "name": "POL3",
                    "type": "synonym"
                },
                {
                    "name": "TEX1",
                    "type": "synonym"
                }
            ],
            "record_id": "P15436-1",
            "evidence": [
                {
                    "id": "0061086",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061086"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O54747-1",
            "uniprot_ac": "O54747",
            "uniprot_id": "DPOD1_RAT",
            "refseq_ac": "NP_067694",
            "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 catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.7",
                    "type": "synonym"
                },
                {
                    "name": "3'-5' exodeoxyribonuclease",
                    "type": "synonym"
                },
                {
                    "name": "3.1.11.-",
                    "type": "synonym"
                },
                {
                    "name": "DAN polymerase delta 1, catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase delta catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase delta, catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed DNA polymerase delta 1",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA directed), delta 1, catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA) delta 1, catalytic subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pold1",
                    "type": "recommended"
                },
                {
                    "name": "Pold1",
                    "type": "synonym"
                }
            ],
            "record_id": "O54747-1",
            "evidence": [
                {
                    "id": "0061086",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061086"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54358-1",
            "uniprot_ac": "P54358",
            "uniprot_id": "DPOD1_DROME",
            "refseq_ac": "NP_524099",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA polymerase delta catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.7",
                    "type": "synonym"
                },
                {
                    "name": "3'-5' exodeoxyribonuclease",
                    "type": "synonym"
                },
                {
                    "name": "3.1.11.-",
                    "type": "synonym"
                },
                {
                    "name": "CG5949-PA",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase delta subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase delta",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase-delta",
                    "type": "synonym"
                },
                {
                    "name": "DNA-polymerase-delta",
                    "type": "synonym"
                },
                {
                    "name": "DNApol-delta",
                    "type": "synonym"
                },
                {
                    "name": "PolD1-PA",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) 72Ac",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PolD1",
                    "type": "recommended"
                },
                {
                    "name": "5949",
                    "type": "synonym"
                },
                {
                    "name": "CAA61369",
                    "type": "synonym"
                },
                {
                    "name": "CG5949",
                    "type": "synonym"
                },
                {
                    "name": "DNA Pol Delta",
                    "type": "synonym"
                },
                {
                    "name": "DNA pol delta",
                    "type": "synonym"
                },
                {
                    "name": "DNApol-delta",
                    "type": "synonym"
                },
                {
                    "name": "DNApolD1",
                    "type": "synonym"
                },
                {
                    "name": "Dm Poldelta",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5949",
                    "type": "synonym"
                },
                {
                    "name": "Pol delta125",
                    "type": "synonym"
                },
                {
                    "name": "PolD1",
                    "type": "synonym"
                },
                {
                    "name": "PolD",
                    "type": "synonym"
                },
                {
                    "name": "Poldelta 125KDa",
                    "type": "synonym"
                },
                {
                    "name": "Poldelta125KDa",
                    "type": "synonym"
                },
                {
                    "name": "Poldelta",
                    "type": "synonym"
                },
                {
                    "name": "dnapol delta",
                    "type": "synonym"
                },
                {
                    "name": "l(3)72Ac",
                    "type": "synonym"
                },
                {
                    "name": "polD",
                    "type": "synonym"
                }
            ],
            "record_id": "P54358-1",
            "evidence": [
                {
                    "id": "0061086",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061086"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061086"
}