{
    "disease_id": "DOID:0080516",
    "recommended_name": {
        "id": "DOID:0080516",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080516",
        "name": "Meier-Gorlin syndrome 5",
        "description": "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDC6 gene on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0013432",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013432",
            "name": "Meier-Gorlin syndrome 5",
            "description": "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene."
        },
        {
            "id": "MONDO:0013432",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013432",
            "name": "CDC6 Meier-Gorlin syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013432",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013432",
            "name": "Meier-Gorlin syndrome 5",
            "description": ""
        },
        {
            "id": "MONDO:0013432",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013432",
            "name": "Meier-Gorlin syndrome caused by mutation in CDC6",
            "description": ""
        },
        {
            "id": "MONDO:0013432",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013432",
            "name": "Meier-Gorlin syndrome type 5",
            "description": ""
        },
        {
            "id": "MONDO:0013432",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013432",
            "name": "MGORS5",
            "description": ""
        },
        {
            "id": "MIM:613805",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613805",
            "name": "Meier-Gorlin syndrome 5",
            "description": "Meier-Gorlin syndrome 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080516"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080516",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080516",
            "categories": []
        },
        {
            "id": "MONDO:0013432",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013432",
            "categories": []
        },
        {
            "id": "MIM:613805",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613805",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O89033-1",
            "uniprot_ac": "O89033",
            "uniprot_id": "CDC6_MOUSE",
            "refseq_ac": "NP_001020950",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA replication factor CDC6",
                    "type": "recommended"
                },
                {
                    "name": "CDC6-related protein",
                    "type": "synonym"
                },
                {
                    "name": "Cell division control protein 6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "cell division control protein 6 homolog isoform b",
                    "type": "synonym"
                },
                {
                    "name": "cell division control protein 6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "cell division cycle 6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "p62(cdc6)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdc6",
                    "type": "recommended"
                },
                {
                    "name": "CDC18L",
                    "type": "synonym"
                },
                {
                    "name": "Cdc6",
                    "type": "synonym"
                },
                {
                    "name": "p62(cdc6)",
                    "type": "synonym"
                }
            ],
            "record_id": "O89033-1",
            "evidence": [
                {
                    "id": "0080516",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080516"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99741-1",
            "uniprot_ac": "Q99741",
            "uniprot_id": "CDC6_HUMAN",
            "refseq_ac": "NP_001245",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA replication factor CDC6",
                    "type": "recommended"
                },
                {
                    "name": "CDC6 cell division cycle 6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "CDC6-related protein",
                    "type": "synonym"
                },
                {
                    "name": "Cdc18-related protein",
                    "type": "synonym"
                },
                {
                    "name": "Cell division control protein 6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "HsCDC6",
                    "type": "synonym"
                },
                {
                    "name": "HsCdc18",
                    "type": "synonym"
                },
                {
                    "name": "cdc18-related protein",
                    "type": "synonym"
                },
                {
                    "name": "cell division control protein 6 homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cell division control protein 6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "p62(cdc6)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDC6",
                    "type": "recommended"
                },
                {
                    "name": "CDC18L",
                    "type": "synonym"
                },
                {
                    "name": "CDC6",
                    "type": "synonym"
                },
                {
                    "name": "HsCDC18",
                    "type": "synonym"
                },
                {
                    "name": "HsCDC6",
                    "type": "synonym"
                },
                {
                    "name": "MGORS5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99741-1",
            "evidence": [
                {
                    "id": "613805",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613805"
                },
                {
                    "id": "0080516",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080516"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09119-1",
            "uniprot_ac": "P09119",
            "uniprot_id": "CDC6_YEAST",
            "refseq_ac": "NP_012341",
            "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": "DNA replication factor CDC6",
                    "type": "recommended"
                },
                {
                    "name": "AAA family ATPase CDC6",
                    "type": "synonym"
                },
                {
                    "name": "Cell division control protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDC6",
                    "type": "recommended"
                },
                {
                    "name": "CDC6",
                    "type": "synonym"
                },
                {
                    "name": "J0347",
                    "type": "synonym"
                }
            ],
            "record_id": "P09119-1",
            "evidence": [
                {
                    "id": "0080516",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080516"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZRK7-1",
            "uniprot_ac": "D3ZRK7",
            "uniprot_id": "D3ZRK7_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": "Cell division control protein",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdc6",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZRK7-1",
            "evidence": [
                {
                    "id": "0080516",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080516"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VSM9-1",
            "uniprot_ac": "Q9VSM9",
            "uniprot_id": "Q9VSM9_DROME",
            "refseq_ac": "NP_648247",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cell division control protein",
                    "type": "recommended"
                },
                {
                    "name": "CG5971-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cdc6-PA",
                    "type": "synonym"
                },
                {
                    "name": "cell division cycle 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdc6",
                    "type": "recommended"
                },
                {
                    "name": "CDC6",
                    "type": "synonym"
                },
                {
                    "name": "CG5971",
                    "type": "synonym"
                },
                {
                    "name": "Cdc6",
                    "type": "synonym"
                },
                {
                    "name": "DmCdc6",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5971",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5971",
                    "type": "synonym"
                },
                {
                    "name": "cdc6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VSM9-1",
            "evidence": [
                {
                    "id": "0080516",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080516"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080516"
}