{
    "disease_id": "DOID:0080514",
    "recommended_name": {
        "id": "DOID:0080514",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080514",
        "name": "Meier-Gorlin syndrome 3",
        "description": "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC6 gene on chromosome 16q11."
    },
    "synonyms": [
        {
            "id": "MONDO:0013430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013430",
            "name": "Meier-Gorlin syndrome 3",
            "description": "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene."
        },
        {
            "id": "MONDO:0013430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013430",
            "name": "Meier-Gorlin syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0013430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013430",
            "name": "Meier-Gorlin syndrome caused by mutation in ORC6",
            "description": ""
        },
        {
            "id": "MONDO:0013430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013430",
            "name": "Meier-Gorlin syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013430",
            "name": "ORC6 Meier-Gorlin syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013430",
            "name": "MGORS3",
            "description": ""
        },
        {
            "id": "MIM:613803",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613803",
            "name": "Meier-Gorlin syndrome 3",
            "description": "Meier-Gorlin syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080514"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080514",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080514",
            "categories": []
        },
        {
            "id": "MONDO:0013430",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013430",
            "categories": []
        },
        {
            "id": "MIM:613803",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613803",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9WUJ8-1",
            "uniprot_ac": "Q9WUJ8",
            "uniprot_id": "ORC6_MOUSE",
            "refseq_ac": "",
            "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 6",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Orc6",
                    "type": "recommended"
                },
                {
                    "name": "Orc6l",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WUJ8-1",
            "evidence": [
                {
                    "id": "0080514",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080514"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y5N6-1",
            "uniprot_ac": "Q9Y5N6",
            "uniprot_id": "ORC6_HUMAN",
            "refseq_ac": "NP_055136",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Origin recognition complex subunit 6",
                    "type": "recommended"
                },
                {
                    "name": "origin recognition complex subunit 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ORC6",
                    "type": "recommended"
                },
                {
                    "name": "ORC6L",
                    "type": "synonym"
                },
                {
                    "name": "ORC6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y5N6-1",
            "evidence": [
                {
                    "id": "613803",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613803"
                },
                {
                    "id": "0080514",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080514"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7FAH8-1",
            "uniprot_ac": "F7FAH8",
            "uniprot_id": "F7FAH8_RAT",
            "refseq_ac": "NP_001028862",
            "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 6",
                    "type": "recommended"
                },
                {
                    "name": "origin recognition complex subunit 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Orc6",
                    "type": "recommended"
                },
                {
                    "name": "Orc6l",
                    "type": "synonym"
                },
                {
                    "name": "Orc6",
                    "type": "synonym"
                }
            ],
            "record_id": "F7FAH8-1",
            "evidence": [
                {
                    "id": "0080514",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080514"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y1B2-1",
            "uniprot_ac": "Q9Y1B2",
            "uniprot_id": "ORC6_DROME",
            "refseq_ac": "NP_477319",
            "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 6",
                    "type": "recommended"
                },
                {
                    "name": "CG1584-PA",
                    "type": "synonym"
                },
                {
                    "name": "Orc6-PA",
                    "type": "synonym"
                },
                {
                    "name": "origin recognition complex subunit 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Orc6",
                    "type": "recommended"
                },
                {
                    "name": "CG1584",
                    "type": "synonym"
                },
                {
                    "name": "DmORC 6",
                    "type": "synonym"
                },
                {
                    "name": "DmORC6",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1584",
                    "type": "synonym"
                },
                {
                    "name": "ORC6",
                    "type": "synonym"
                },
                {
                    "name": "ORC",
                    "type": "synonym"
                },
                {
                    "name": "Orc6",
                    "type": "synonym"
                },
                {
                    "name": "orc6",
                    "type": "synonym"
                },
                {
                    "name": "rDmORC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y1B2-1",
            "evidence": [
                {
                    "id": "0080514",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080514"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080514"
}