{
    "disease_id": "DOID:0080513",
    "recommended_name": {
        "id": "DOID:0080513",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080513",
        "name": "Meier-Gorlin syndrome 2",
        "description": "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC4 gene on chromosome 2q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0013428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013428",
            "name": "Meier-Gorlin syndrome 2",
            "description": "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene."
        },
        {
            "id": "MONDO:0013428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013428",
            "name": "Meier-Gorlin syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0013428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013428",
            "name": "Meier-Gorlin syndrome caused by mutation in ORC4",
            "description": ""
        },
        {
            "id": "MONDO:0013428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013428",
            "name": "Meier-Gorlin syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013428",
            "name": "ORC4 Meier-Gorlin syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013428",
            "name": "MGORS2",
            "description": ""
        },
        {
            "id": "MIM:613800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613800",
            "name": "Meier-Gorlin syndrome 2",
            "description": "Meier-Gorlin syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080513"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080513",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080513",
            "categories": []
        },
        {
            "id": "MONDO:0013428",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013428",
            "categories": []
        },
        {
            "id": "MIM:613800",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613800",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QRE0-1",
            "uniprot_ac": "F1QRE0",
            "uniprot_id": "F1QRE0_DANRE",
            "refseq_ac": "XP_005168754",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Origin recognition complex subunit 4",
                    "type": "recommended"
                },
                {
                    "name": "origin recognition complex subunit 4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "orc4",
                    "type": "recommended"
                },
                {
                    "name": "fc50c03",
                    "type": "synonym"
                },
                {
                    "name": "orc4",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc50c03",
                    "type": "synonym"
                },
                {
                    "name": "zgc:85772",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QRE0-1",
            "evidence": [
                {
                    "id": "0080513",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080513"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88708-1",
            "uniprot_ac": "O88708",
            "uniprot_id": "ORC4_MOUSE",
            "refseq_ac": "NP_036088",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Origin recognition complex subunit 4",
                    "type": "recommended"
                },
                {
                    "name": "origin recognition complex subunit 4 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Orc4",
                    "type": "recommended"
                },
                {
                    "name": "Orc4P",
                    "type": "synonym"
                },
                {
                    "name": "Orc4l",
                    "type": "synonym"
                },
                {
                    "name": "Orc4",
                    "type": "synonym"
                },
                {
                    "name": "mMmORC4",
                    "type": "synonym"
                }
            ],
            "record_id": "O88708-1",
            "evidence": [
                {
                    "id": "0080513",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080513"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43929-1",
            "uniprot_ac": "O43929",
            "uniprot_id": "ORC4_HUMAN",
            "refseq_ac": "NP_001177808",
            "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 4",
                    "type": "recommended"
                },
                {
                    "name": "origin recognition complex subunit 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "origin recognition complex, subunit 4 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ORC4",
                    "type": "recommended"
                },
                {
                    "name": "ORC4L",
                    "type": "synonym"
                },
                {
                    "name": "ORC4P",
                    "type": "synonym"
                },
                {
                    "name": "ORC4",
                    "type": "synonym"
                }
            ],
            "record_id": "O43929-1",
            "evidence": [
                {
                    "id": "613800",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613800"
                },
                {
                    "id": "0080513",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080513"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54791-1",
            "uniprot_ac": "P54791",
            "uniprot_id": "ORC4_YEAST",
            "refseq_ac": "NP_015488",
            "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 4",
                    "type": "recommended"
                },
                {
                    "name": "Origin recognition complex 56 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "origin recognition complex subunit 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ORC4",
                    "type": "recommended"
                },
                {
                    "name": "ORC4",
                    "type": "synonym"
                },
                {
                    "name": "P9325.5",
                    "type": "synonym"
                }
            ],
            "record_id": "P54791-1",
            "evidence": [
                {
                    "id": "0080513",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080513"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P9Z8-1",
            "uniprot_ac": "Q6P9Z8",
            "uniprot_id": "ORC4_RAT",
            "refseq_ac": "NP_954523",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Origin recognition complex subunit 4",
                    "type": "recommended"
                },
                {
                    "name": "origin recognition complex subunit 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Orc4",
                    "type": "recommended"
                },
                {
                    "name": "Orc4l",
                    "type": "synonym"
                },
                {
                    "name": "Orc4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P9Z8-1",
            "evidence": [
                {
                    "id": "0080513",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080513"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W102-1",
            "uniprot_ac": "Q9W102",
            "uniprot_id": "Q9W102_DROME",
            "refseq_ac": "NP_477320",
            "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 4",
                    "type": "recommended"
                },
                {
                    "name": "CG2917-PA",
                    "type": "synonym"
                },
                {
                    "name": "Orc4-PA",
                    "type": "synonym"
                },
                {
                    "name": "origin recognition complex subunit 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Orc4",
                    "type": "recommended"
                },
                {
                    "name": "CG2917",
                    "type": "synonym"
                },
                {
                    "name": "DmORC4",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2917",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2917",
                    "type": "synonym"
                },
                {
                    "name": "ORC4",
                    "type": "synonym"
                },
                {
                    "name": "ORC",
                    "type": "synonym"
                },
                {
                    "name": "Orc4",
                    "type": "synonym"
                },
                {
                    "name": "dmOrc4",
                    "type": "synonym"
                },
                {
                    "name": "orc4",
                    "type": "synonym"
                },
                {
                    "name": "rDmORC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W102-1",
            "evidence": [
                {
                    "id": "0080513",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080513"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080513"
}