{
    "disease_id": "DOID:0080255",
    "recommended_name": {
        "id": "DOID:0080255",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080255",
        "name": "Meier-Gorlin syndrome 8",
        "description": "A Meier-Gorlin syndrome that has_material_basis_in compound heterozygous mutation in the MCM5 gene on chromosome 22q12."
    },
    "synonyms": [
        {
            "id": "MONDO:0033046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033046",
            "name": "Meier-Gorlin syndrome 8",
            "description": ""
        },
        {
            "id": "MONDO:0033046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033046",
            "name": "Meier-Gorlin syndrome 8",
            "description": ""
        },
        {
            "id": "MONDO:0033046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033046",
            "name": "MGORS8",
            "description": ""
        },
        {
            "id": "MIM:617564",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617564",
            "name": "Meier-Gorlin syndrome 8",
            "description": "Meier-Gorlin syndrome 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080255"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080255",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080255",
            "categories": []
        },
        {
            "id": "MONDO:0033046",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033046",
            "categories": []
        },
        {
            "id": "MIM:617564",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617564",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P49718-1",
            "uniprot_ac": "P49718",
            "uniprot_id": "MCM5_MOUSE",
            "refseq_ac": "NP_001289469",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA replication licensing factor MCM5",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.12",
                    "type": "synonym"
                },
                {
                    "name": "CDC46 homolog",
                    "type": "synonym"
                },
                {
                    "name": "DNA replication licensing factor MCM5",
                    "type": "synonym"
                },
                {
                    "name": "P1-CDC46",
                    "type": "synonym"
                },
                {
                    "name": "mini chromosome maintenance deficient 5",
                    "type": "synonym"
                },
                {
                    "name": "minichromosome maintenance deficient 5, cell division cycle 46",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mcm5",
                    "type": "recommended"
                },
                {
                    "name": "Cdc46",
                    "type": "synonym"
                },
                {
                    "name": "Mcm5",
                    "type": "synonym"
                },
                {
                    "name": "Mcmd5",
                    "type": "synonym"
                },
                {
                    "name": "P1-CDC46",
                    "type": "synonym"
                }
            ],
            "record_id": "P49718-1",
            "evidence": [
                {
                    "id": "0080255",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080255"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P33992-1",
            "uniprot_ac": "P33992",
            "uniprot_id": "MCM5_HUMAN",
            "refseq_ac": "NP_006730",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA replication licensing factor MCM5",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.12",
                    "type": "synonym"
                },
                {
                    "name": "CDC46 homolog",
                    "type": "synonym"
                },
                {
                    "name": "DNA replication licensing factor MCM5",
                    "type": "synonym"
                },
                {
                    "name": "MCM5 minichromosome maintenance deficient 5, cell division cycle 46",
                    "type": "synonym"
                },
                {
                    "name": "P1-CDC46",
                    "type": "synonym"
                },
                {
                    "name": "minichromosome maintenance deficient 5 (cell division cycle 46)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MCM5",
                    "type": "recommended"
                },
                {
                    "name": "CDC46",
                    "type": "synonym"
                },
                {
                    "name": "MCM5",
                    "type": "synonym"
                },
                {
                    "name": "MGORS8",
                    "type": "synonym"
                },
                {
                    "name": "P1-CDC46",
                    "type": "synonym"
                }
            ],
            "record_id": "P33992-1",
            "evidence": [
                {
                    "id": "617564",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617564"
                },
                {
                    "id": "0080255",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080255"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29496-1",
            "uniprot_ac": "P29496",
            "uniprot_id": "MCM5_YEAST",
            "refseq_ac": "NP_013376",
            "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": "Minichromosome maintenance protein 5",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.12",
                    "type": "synonym"
                },
                {
                    "name": "Cell division control protein 46",
                    "type": "synonym"
                },
                {
                    "name": "MCM DNA helicase complex subunit MCM5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MCM5",
                    "type": "recommended"
                },
                {
                    "name": "BOB1",
                    "type": "synonym"
                },
                {
                    "name": "CDC46",
                    "type": "synonym"
                },
                {
                    "name": "L9328.1",
                    "type": "synonym"
                },
                {
                    "name": "MCM5",
                    "type": "synonym"
                }
            ],
            "record_id": "P29496-1",
            "evidence": [
                {
                    "id": "0080255",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080255"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0M285-1",
            "uniprot_ac": "A0ABK0M285",
            "uniprot_id": "A0ABK0M285_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 replication licensing factor MCM5",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mcm5",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0M285-1",
            "evidence": [
                {
                    "id": "0080255",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080255"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VGW6-1",
            "uniprot_ac": "Q9VGW6",
            "uniprot_id": "MCM5_DROME",
            "refseq_ac": "NP_524308",
            "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 replication licensing factor Mcm5",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.12",
                    "type": "synonym"
                },
                {
                    "name": "CG4082-PA",
                    "type": "synonym"
                },
                {
                    "name": "DmMCM5",
                    "type": "synonym"
                },
                {
                    "name": "Mcm5-PA",
                    "type": "synonym"
                },
                {
                    "name": "Minichromosome maintenance 5 protein",
                    "type": "synonym"
                },
                {
                    "name": "mini-chromosome maintenance 5",
                    "type": "synonym"
                },
                {
                    "name": "minichromosome maintenance 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mcm5",
                    "type": "recommended"
                },
                {
                    "name": "CG4082",
                    "type": "synonym"
                },
                {
                    "name": "DmCDC465",
                    "type": "synonym"
                },
                {
                    "name": "DmCDC46",
                    "type": "synonym"
                },
                {
                    "name": "DmMCM5",
                    "type": "synonym"
                },
                {
                    "name": "DmMcm5",
                    "type": "synonym"
                },
                {
                    "name": "DmeMCM5",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4082",
                    "type": "synonym"
                },
                {
                    "name": "MCM5",
                    "type": "synonym"
                },
                {
                    "name": "McM5",
                    "type": "synonym"
                },
                {
                    "name": "Mcm5",
                    "type": "synonym"
                },
                {
                    "name": "PCR4",
                    "type": "synonym"
                },
                {
                    "name": "mcm5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VGW6-1",
            "evidence": [
                {
                    "id": "0080255",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080255"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080255"
}