{
    "disease_id": "DOID:0080515",
    "recommended_name": {
        "id": "DOID:0080515",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080515",
        "name": "Meier-Gorlin syndrome 4",
        "description": "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDT1 gene on chromosome 16q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0013431",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013431",
            "name": "Meier-Gorlin syndrome 4",
            "description": "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDT1 gene."
        },
        {
            "id": "MONDO:0013431",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013431",
            "name": "CDT1 Meier-Gorlin syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013431",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013431",
            "name": "Meier-Gorlin syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0013431",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013431",
            "name": "Meier-Gorlin syndrome caused by mutation in CDT1",
            "description": ""
        },
        {
            "id": "MONDO:0013431",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013431",
            "name": "Meier-Gorlin syndrome type 4",
            "description": ""
        },
        {
            "id": "MONDO:0013431",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013431",
            "name": "MGORS4",
            "description": ""
        },
        {
            "id": "MIM:613804",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613804",
            "name": "Meier-Gorlin syndrome 4",
            "description": "Meier-Gorlin syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080515"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080515",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080515",
            "categories": []
        },
        {
            "id": "MONDO:0013431",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013431",
            "categories": []
        },
        {
            "id": "MIM:613804",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613804",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F2R5-1",
            "uniprot_ac": "E7F2R5",
            "uniprot_id": "E7F2R5_DANRE",
            "refseq_ac": "XP_695164",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA replication factor Cdt1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cdt1",
                    "type": "recommended"
                },
                {
                    "name": "cdt1",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F2R5-1",
            "evidence": [
                {
                    "id": "0080515",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080515"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R4E9-1",
            "uniprot_ac": "Q8R4E9",
            "uniprot_id": "CDT1_MOUSE",
            "refseq_ac": "NP_080290",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA replication factor Cdt1",
                    "type": "recommended"
                },
                {
                    "name": "DNA replication factor Cdt1",
                    "type": "synonym"
                },
                {
                    "name": "DUP",
                    "type": "synonym"
                },
                {
                    "name": "Double parked homolog",
                    "type": "synonym"
                },
                {
                    "name": "Retroviral insertion site 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "double parked homolog",
                    "type": "synonym"
                },
                {
                    "name": "retroviral insertion site 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "retroviral integration site 1",
                    "type": "synonym"
                },
                {
                    "name": "retroviral integration site 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdt1",
                    "type": "recommended"
                },
                {
                    "name": "2610318F11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cdt1",
                    "type": "synonym"
                },
                {
                    "name": "DUP",
                    "type": "synonym"
                },
                {
                    "name": "Ris2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R4E9-1",
            "evidence": [
                {
                    "id": "0080515",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080515"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H211-1",
            "uniprot_ac": "Q9H211",
            "uniprot_id": "CDT1_HUMAN",
            "refseq_ac": "NP_112190",
            "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 Cdt1",
                    "type": "recommended"
                },
                {
                    "name": "DNA replication factor Cdt1",
                    "type": "synonym"
                },
                {
                    "name": "DUP",
                    "type": "synonym"
                },
                {
                    "name": "Double parked homolog",
                    "type": "synonym"
                },
                {
                    "name": "Double parked, Drosophila, homolog of",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDT1",
                    "type": "recommended"
                },
                {
                    "name": "CDT1",
                    "type": "synonym"
                },
                {
                    "name": "DUP",
                    "type": "synonym"
                },
                {
                    "name": "RIS2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H211-1",
            "evidence": [
                {
                    "id": "613804",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613804"
                },
                {
                    "id": "0080515",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080515"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZKD4-1",
            "uniprot_ac": "D3ZKD4",
            "uniprot_id": "D3ZKD4_RAT",
            "refseq_ac": "NP_001099662",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA replication factor Cdt1",
                    "type": "recommended"
                },
                {
                    "name": "DNA replication factor Cdt1",
                    "type": "synonym"
                },
                {
                    "name": "Double parked homolog",
                    "type": "synonym"
                },
                {
                    "name": "retroviral integration site 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdt1",
                    "type": "recommended"
                },
                {
                    "name": "Cdt1",
                    "type": "synonym"
                },
                {
                    "name": "Ris2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZKD4-1",
            "evidence": [
                {
                    "id": "0080515",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080515"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080515"
}