{
    "disease_id": "DOID:0080518",
    "recommended_name": {
        "id": "DOID:0080518",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080518",
        "name": "Meier-Gorlin syndrome 7",
        "description": "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDC45 gene on chromosome 22q11."
    },
    "synonyms": [
        {
            "id": "MONDO:0014894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014894",
            "name": "Meier-Gorlin syndrome 7",
            "description": "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene."
        },
        {
            "id": "MONDO:0014894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014894",
            "name": "CDC45 Meier-Gorlin syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014894",
            "name": "MGORS7",
            "description": ""
        },
        {
            "id": "MONDO:0014894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014894",
            "name": "Meier-Gorlin syndrome 7",
            "description": ""
        },
        {
            "id": "MONDO:0014894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014894",
            "name": "Meier-Gorlin syndrome 7; MGORS7",
            "description": ""
        },
        {
            "id": "MONDO:0014894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014894",
            "name": "Meier-Gorlin syndrome caused by mutation in CDC45",
            "description": ""
        },
        {
            "id": "MONDO:0014894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014894",
            "name": "Meier-Gorlin syndrome type 7",
            "description": ""
        },
        {
            "id": "MIM:617063",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617063",
            "name": "Meier-Gorlin syndrome 7",
            "description": "Meier-Gorlin syndrome 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080518"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080518",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080518",
            "categories": []
        },
        {
            "id": "MONDO:0014894",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014894",
            "categories": []
        },
        {
            "id": "MIM:617063",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617063",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZU79-1",
            "uniprot_ac": "Q7ZU79",
            "uniprot_id": "Q7ZU79_DANRE",
            "refseq_ac": "NP_998551",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cell division control protein 45 homolog",
                    "type": "synonym"
                },
                {
                    "name": "cell division control protein 45 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cdc45",
                    "type": "recommended"
                },
                {
                    "name": "cdc45l",
                    "type": "synonym"
                },
                {
                    "name": "cdc45",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi05h01",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56264",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZU79-1",
            "evidence": [
                {
                    "id": "0080518",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080518"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z1X9-1",
            "uniprot_ac": "Q9Z1X9",
            "uniprot_id": "CDC45_MOUSE",
            "refseq_ac": "NP_033992",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cell division control protein 45 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CDC45-related protein",
                    "type": "synonym"
                },
                {
                    "name": "PORC-PI-1",
                    "type": "synonym"
                },
                {
                    "name": "cell division control protein 45 homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cell division control protein 45 homolog",
                    "type": "synonym"
                },
                {
                    "name": "cell division cycle 45 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdc45",
                    "type": "recommended"
                },
                {
                    "name": "Cdc45l2",
                    "type": "synonym"
                },
                {
                    "name": "Cdc45l",
                    "type": "synonym"
                },
                {
                    "name": "Cdc45",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z1X9-1",
            "evidence": [
                {
                    "id": "0080518",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080518"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75419-1",
            "uniprot_ac": "O75419",
            "uniprot_id": "CDC45_HUMAN",
            "refseq_ac": "NP_001171481",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cell division control protein 45 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CDC45 cell division cycle 45 homolog",
                    "type": "synonym"
                },
                {
                    "name": "CDC45 cell division cycle 45-like",
                    "type": "synonym"
                },
                {
                    "name": "CDC45-related protein",
                    "type": "synonym"
                },
                {
                    "name": "PORC-PI-1",
                    "type": "synonym"
                },
                {
                    "name": "cell division control protein 45 homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cell division control protein 45 homolog",
                    "type": "synonym"
                },
                {
                    "name": "cell division cycle 45-like 2",
                    "type": "synonym"
                },
                {
                    "name": "human CDC45",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDC45",
                    "type": "recommended"
                },
                {
                    "name": "CDC45L2",
                    "type": "synonym"
                },
                {
                    "name": "CDC45L",
                    "type": "synonym"
                },
                {
                    "name": "CDC45",
                    "type": "synonym"
                },
                {
                    "name": "MGORS7",
                    "type": "synonym"
                },
                {
                    "name": "PORC-PI-1",
                    "type": "synonym"
                },
                {
                    "name": "PRO710",
                    "type": "synonym"
                }
            ],
            "record_id": "O75419-1",
            "evidence": [
                {
                    "id": "617063",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617063"
                },
                {
                    "id": "0080518",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080518"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08032-1",
            "uniprot_ac": "Q08032",
            "uniprot_id": "CDC45_YEAST",
            "refseq_ac": "NP_013204",
            "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": "Cell division control protein 45",
                    "type": "recommended"
                },
                {
                    "name": "DNA replication initiation factor CDC45",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDC45",
                    "type": "recommended"
                },
                {
                    "name": "CDC45",
                    "type": "synonym"
                },
                {
                    "name": "L8004.11",
                    "type": "synonym"
                },
                {
                    "name": "SLD4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08032-1",
            "evidence": [
                {
                    "id": "0080518",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080518"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B1WBZ4-1",
            "uniprot_ac": "B1WBZ4",
            "uniprot_id": "B1WBZ4_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": "Cell division cycle 45",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdc45",
                    "type": "recommended"
                }
            ],
            "record_id": "B1WBZ4-1",
            "evidence": [
                {
                    "id": "0080518",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080518"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O96989-1",
            "uniprot_ac": "O96989",
            "uniprot_id": "O96989_DROME",
            "refseq_ac": "NP_569880",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CDC45L",
                    "type": "synonym"
                },
                {
                    "name": "CG3658-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cdc45-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cell division cycle 45",
                    "type": "synonym"
                },
                {
                    "name": "cell division cycle 45",
                    "type": "synonym"
                },
                {
                    "name": "transcription unit D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdc45",
                    "type": "recommended"
                },
                {
                    "name": "CDC45L",
                    "type": "synonym"
                },
                {
                    "name": "CDC45",
                    "type": "synonym"
                },
                {
                    "name": "CG3658",
                    "type": "synonym"
                },
                {
                    "name": "Cdc45",
                    "type": "synonym"
                },
                {
                    "name": "DmCdc45",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3658",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3658",
                    "type": "synonym"
                },
                {
                    "name": "D",
                    "type": "synonym"
                },
                {
                    "name": "EG:BACR7A4.11",
                    "type": "synonym"
                },
                {
                    "name": "anon-1Ec",
                    "type": "synonym"
                },
                {
                    "name": "cdc45",
                    "type": "synonym"
                },
                {
                    "name": "dCDC45L",
                    "type": "synonym"
                },
                {
                    "name": "dCDC45",
                    "type": "synonym"
                }
            ],
            "record_id": "O96989-1",
            "evidence": [
                {
                    "id": "0080518",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080518"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080518"
}