{
    "disease_id": "DOID:0080512",
    "recommended_name": {
        "id": "DOID:0080512",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080512",
        "name": "Meier-Gorlin syndrome 1",
        "description": "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC1 gene on chromosome 1p32."
    },
    "synonyms": [
        {
            "id": "MONDO:0009143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009143",
            "name": "Meier-Gorlin syndrome 1",
            "description": "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC1 gene."
        },
        {
            "id": "MONDO:0009143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009143",
            "name": "Meier-Gorlin syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0009143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009143",
            "name": "Meier-Gorlin syndrome caused by mutation in ORC1",
            "description": ""
        },
        {
            "id": "MONDO:0009143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009143",
            "name": "Meier-Gorlin syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009143",
            "name": "ORC1 Meier-Gorlin syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009143",
            "name": "MGORS1",
            "description": ""
        },
        {
            "id": "MIM:224690",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/224690",
            "name": "Meier-Gorlin syndrome 1",
            "description": "Meier-Gorlin syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080512"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080512",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080512",
            "categories": []
        },
        {
            "id": "MONDO:0009143",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009143",
            "categories": []
        },
        {
            "id": "MIM:224690",
            "database": "MIM",
            "url": "https://www.omim.org/entry/224690",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QLF9-1",
            "uniprot_ac": "F1QLF9",
            "uniprot_id": "F1QLF9_DANRE",
            "refseq_ac": "XP_005166338",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Origin recognition complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "origin recognition complex subunit 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "orc1",
                    "type": "recommended"
                },
                {
                    "name": "orc1l",
                    "type": "synonym"
                },
                {
                    "name": "orc1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa11h08",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55976",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QLF9-1",
            "evidence": [
                {
                    "id": "0080512",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080512"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z1N2-1",
            "uniprot_ac": "Q9Z1N2",
            "uniprot_id": "ORC1_MOUSE",
            "refseq_ac": "NP_035145",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Origin recognition complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "origin recognition complex subunit 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Orc1",
                    "type": "recommended"
                },
                {
                    "name": "MmORC1",
                    "type": "synonym"
                },
                {
                    "name": "Orc1l",
                    "type": "synonym"
                },
                {
                    "name": "Orc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z1N2-1",
            "evidence": [
                {
                    "id": "0080512",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080512"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13415-1",
            "uniprot_ac": "Q13415",
            "uniprot_id": "ORC1_HUMAN",
            "refseq_ac": "NP_001177747",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Origin recognition complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "Replication control protein 1",
                    "type": "synonym"
                },
                {
                    "name": "origin recognition complex subunit 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "origin recognition complex, subunit 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "replication control protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ORC1",
                    "type": "recommended"
                },
                {
                    "name": "HSORC1",
                    "type": "synonym"
                },
                {
                    "name": "ORC1L",
                    "type": "synonym"
                },
                {
                    "name": "ORC1",
                    "type": "synonym"
                },
                {
                    "name": "PARC1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13415-1",
            "evidence": [
                {
                    "id": "224690",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/224690"
                },
                {
                    "id": "0080512",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080512"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54784-1",
            "uniprot_ac": "P54784",
            "uniprot_id": "ORC1_YEAST",
            "refseq_ac": "NP_013646",
            "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": "Origin recognition complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "Origin recognition complex 120 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "origin recognition complex subunit 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ORC1",
                    "type": "recommended"
                },
                {
                    "name": "ORC1",
                    "type": "synonym"
                }
            ],
            "record_id": "P54784-1",
            "evidence": [
                {
                    "id": "0080512",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080512"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06701-1",
            "uniprot_ac": "P06701",
            "uniprot_id": "SIR3_YEAST",
            "refseq_ac": "NP_013547",
            "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": "Regulatory protein SIR3",
                    "type": "recommended"
                },
                {
                    "name": "Silent information regulator 3",
                    "type": "synonym"
                },
                {
                    "name": "chromatin-silencing protein SIR3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SIR3",
                    "type": "recommended"
                },
                {
                    "name": "CMT1",
                    "type": "synonym"
                },
                {
                    "name": "L9753.10",
                    "type": "synonym"
                },
                {
                    "name": "MAR2",
                    "type": "synonym"
                },
                {
                    "name": "SIR3",
                    "type": "synonym"
                },
                {
                    "name": "STE8",
                    "type": "synonym"
                }
            ],
            "record_id": "P06701-1",
            "evidence": [
                {
                    "id": "0080512",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080512"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80Z32-1",
            "uniprot_ac": "Q80Z32",
            "uniprot_id": "ORC1_RAT",
            "refseq_ac": "NP_808792",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Origin recognition complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "origin recognition complex subunit 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Orc1",
                    "type": "recommended"
                },
                {
                    "name": "Orc1l",
                    "type": "synonym"
                },
                {
                    "name": "Orc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80Z32-1",
            "evidence": [
                {
                    "id": "0080512",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080512"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O16810-1",
            "uniprot_ac": "O16810",
            "uniprot_id": "ORC1_DROME",
            "refseq_ac": "NP_477303",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Origin recognition complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "CG10667-PA",
                    "type": "synonym"
                },
                {
                    "name": "DmORC1",
                    "type": "synonym"
                },
                {
                    "name": "Orc1-PA",
                    "type": "synonym"
                },
                {
                    "name": "origin recognition complex 1",
                    "type": "synonym"
                },
                {
                    "name": "origin recognition complex subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "satin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Orc1",
                    "type": "recommended"
                },
                {
                    "name": "CG10667",
                    "type": "synonym"
                },
                {
                    "name": "DmORC1",
                    "type": "synonym"
                },
                {
                    "name": "DmOrc1p",
                    "type": "synonym"
                },
                {
                    "name": "DmOrc1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10667",
                    "type": "synonym"
                },
                {
                    "name": "ORC1",
                    "type": "synonym"
                },
                {
                    "name": "ORC",
                    "type": "synonym"
                },
                {
                    "name": "Orc1",
                    "type": "synonym"
                },
                {
                    "name": "dORC1",
                    "type": "synonym"
                },
                {
                    "name": "fs(2)SC46",
                    "type": "synonym"
                },
                {
                    "name": "orc1",
                    "type": "synonym"
                },
                {
                    "name": "rDmORC",
                    "type": "synonym"
                },
                {
                    "name": "sat",
                    "type": "synonym"
                }
            ],
            "record_id": "O16810-1",
            "evidence": [
                {
                    "id": "0080512",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080512"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080512"
}