{
    "disease_id": "DOID:0111080",
    "recommended_name": {
        "id": "DOID:0111080",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111080",
        "name": "Fanconi anemia complementation group V",
        "description": "A Fanconi anemia that has_material_basis_in homozygous mutation in the MAD2L2 gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0111080",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111080",
            "name": "FANCV",
            "description": ""
        },
        {
            "id": "MONDO:0014985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014985",
            "name": "Fanconi anemia complementation group V",
            "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene."
        },
        {
            "id": "MONDO:0014985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014985",
            "name": "FANCV",
            "description": ""
        },
        {
            "id": "MONDO:0014985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014985",
            "name": "Fanconi Anemia, complementation group V",
            "description": ""
        },
        {
            "id": "MONDO:0014985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014985",
            "name": "Fanconi Anemia, complementation group type V",
            "description": ""
        },
        {
            "id": "MONDO:0014985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014985",
            "name": "Fanconi anaemia caused by mutation in MAD2L2",
            "description": ""
        },
        {
            "id": "MONDO:0014985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014985",
            "name": "Fanconi anaemia complementation group type V",
            "description": ""
        },
        {
            "id": "MONDO:0014985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014985",
            "name": "Fanconi anemia caused by mutation in MAD2L2",
            "description": ""
        },
        {
            "id": "MONDO:0014985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014985",
            "name": "Fanconi anemia complementation group type V",
            "description": ""
        },
        {
            "id": "MONDO:0014985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014985",
            "name": "MAD2L2 Fanconi anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0014985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014985",
            "name": "MAD2L2 Fanconi anemia",
            "description": ""
        },
        {
            "id": "MIM:617243",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617243",
            "name": "Fanconi anemia, complementation group V",
            "description": "Fanconi anemia, complementation group V"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111080"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111080",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111080",
            "categories": []
        },
        {
            "id": "MONDO:0014985",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014985",
            "categories": []
        },
        {
            "id": "MIM:617243",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617243",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q568H3-1",
            "uniprot_ac": "Q568H3",
            "uniprot_id": "MD2L2_DANRE",
            "refseq_ac": "NP_001017595",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitotic spindle assembly checkpoint protein MAD2B",
                    "type": "recommended"
                },
                {
                    "name": "MAD2-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Mitotic arrest deficient 2-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "mitotic arrest deficient 2-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "mitotic spindle assembly checkpoint protein MAD2B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mad2l2",
                    "type": "recommended"
                },
                {
                    "name": "mad2l2",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-23c22.2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110299",
                    "type": "synonym"
                }
            ],
            "record_id": "Q568H3-1",
            "evidence": [
                {
                    "id": "0111080",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111080"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D752-1",
            "uniprot_ac": "Q9D752",
            "uniprot_id": "MD2L2_MOUSE",
            "refseq_ac": "NP_001292349",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitotic spindle assembly checkpoint protein MAD2B",
                    "type": "recommended"
                },
                {
                    "name": "MAD2-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Mitotic arrest deficient 2-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "mitotic arrest deficient 2-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "mitotic spindle assembly checkpoint protein MAD2B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mad2l2",
                    "type": "recommended"
                },
                {
                    "name": "2310033C13Rik",
                    "type": "synonym"
                },
                {
                    "name": "G1-453-4",
                    "type": "synonym"
                },
                {
                    "name": "MAD2B",
                    "type": "synonym"
                },
                {
                    "name": "Mad2b",
                    "type": "synonym"
                },
                {
                    "name": "Mad2l2",
                    "type": "synonym"
                },
                {
                    "name": "REV7",
                    "type": "synonym"
                },
                {
                    "name": "Rev7",
                    "type": "synonym"
                },
                {
                    "name": "repro22",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D752-1",
            "evidence": [
                {
                    "id": "0111080",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111080"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UI95-1",
            "uniprot_ac": "Q9UI95",
            "uniprot_id": "MD2L2_HUMAN",
            "refseq_ac": "NP_001120797",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitotic spindle assembly checkpoint protein MAD2B",
                    "type": "recommended"
                },
                {
                    "name": "MAD2 (mitotic arrest deficient, yeast, homolog)-like 2",
                    "type": "synonym"
                },
                {
                    "name": "MAD2 mitotic arrest deficient-like 2",
                    "type": "synonym"
                },
                {
                    "name": "MAD2-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Mitotic arrest deficient 2-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "REV7 homolog",
                    "type": "synonym"
                },
                {
                    "name": "hREV7",
                    "type": "synonym"
                },
                {
                    "name": "mitotic arrest deficient 2-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "mitotic arrest deficient homolog-like 2",
                    "type": "synonym"
                },
                {
                    "name": "mitotic spindle assembly checkpoint protein MAD2B",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA-directed), zeta 2, accessory subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAD2L2",
                    "type": "recommended"
                },
                {
                    "name": "FANCV",
                    "type": "synonym"
                },
                {
                    "name": "MAD2B",
                    "type": "synonym"
                },
                {
                    "name": "MAD2L2",
                    "type": "synonym"
                },
                {
                    "name": "POLZ2",
                    "type": "synonym"
                },
                {
                    "name": "REV7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UI95-1",
            "evidence": [
                {
                    "id": "617243",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617243"
                },
                {
                    "id": "0111080",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111080"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z8D9-1",
            "uniprot_ac": "D3Z8D9",
            "uniprot_id": "MD2L2_RAT",
            "refseq_ac": "NP_001012106",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitotic spindle assembly checkpoint protein MAD2B",
                    "type": "recommended"
                },
                {
                    "name": "MAD2 mitotic arrest deficient-like 2",
                    "type": "synonym"
                },
                {
                    "name": "MAD2-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Mitotic arrest deficient 2-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "mitotic arrest deficient 2-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "mitotic spindle assembly checkpoint protein MAD2B isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "mitotic spindle assembly checkpoint protein MAD2B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mad2l2",
                    "type": "recommended"
                },
                {
                    "name": "Mad2l2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z8D9-1",
            "evidence": [
                {
                    "id": "0111080",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111080"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VNE1-1",
            "uniprot_ac": "Q9VNE1",
            "uniprot_id": "POLZ2_DROME",
            "refseq_ac": "NP_649555",
            "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 zeta subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "CG2948-PA",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase zeta Rev7 subunit",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase zeta processivity subunit",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase zeta subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "PolZ2-PA",
                    "type": "synonym"
                },
                {
                    "name": "Revertibility protein 7",
                    "type": "synonym"
                },
                {
                    "name": "rev7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PolZ2",
                    "type": "recommended"
                },
                {
                    "name": "CG2948",
                    "type": "synonym"
                },
                {
                    "name": "DmREV7",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2948",
                    "type": "synonym"
                },
                {
                    "name": "PolZ2",
                    "type": "synonym"
                },
                {
                    "name": "Rev7",
                    "type": "synonym"
                },
                {
                    "name": "mad2B",
                    "type": "synonym"
                },
                {
                    "name": "rev7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VNE1-1",
            "evidence": [
                {
                    "id": "0111080",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111080"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111080"
}