{
    "disease_id": "DOID:0060306",
    "recommended_name": {
        "id": "DOID:0060306",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060306",
        "name": "Meier-Gorlin syndrome",
        "description": "A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation."
    },
    "synonyms": [
        {
            "id": "DOID:0060306",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060306",
            "name": "ear-patella-short stature syndrome",
            "description": ""
        },
        {
            "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": "DOID:0051069",
            "label": "Meier-Gorlin syndrome 9",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080255",
            "label": "Meier-Gorlin syndrome 8",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080512",
            "label": "Meier-Gorlin syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080513",
            "label": "Meier-Gorlin syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080514",
            "label": "Meier-Gorlin syndrome 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080515",
            "label": "Meier-Gorlin syndrome 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080516",
            "label": "Meier-Gorlin syndrome 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080517",
            "label": "Meier-Gorlin syndrome 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080518",
            "label": "Meier-Gorlin syndrome 7",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080517",
        "DOID:0080513",
        "DOID:0080515",
        "DOID:0051069",
        "DOID:0060306",
        "DOID:0080512",
        "DOID:0080255",
        "DOID:0080516",
        "DOID:0080518",
        "DOID:0080514"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060306",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060306",
            "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": "F1QRE0-1",
            "uniprot_ac": "F1QRE0",
            "uniprot_id": "F1QRE0_DANRE",
            "refseq_ac": "XP_005168754",
            "glycoprotein": "no",
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                    "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": "0060306",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060306"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7ZU79-1",
            "uniprot_ac": "Q7ZU79",
            "uniprot_id": "Q7ZU79_DANRE",
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                    "common_name": "Zebrafish",
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                    "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"
                }
            ],
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                {
                    "id": "0060306",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060306"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49003-1",
            "uniprot_ac": "P49003",
            "uniprot_id": "BMP5_MOUSE",
            "refseq_ac": "NP_031581",
            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bone morphogenetic protein 5",
                    "type": "recommended"
                },
                {
                    "name": "BMP-5",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 5 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bmp5",
                    "type": "recommended"
                },
                {
                    "name": "Bmp-5",
                    "type": "synonym"
                },
                {
                    "name": "Bmp5",
                    "type": "synonym"
                },
                {
                    "name": "se",
                    "type": "synonym"
                }
            ],
            "record_id": "P49003-1",
            "evidence": [
                {
                    "id": "0060306",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060306"
                }
            ]
        },
        {
            "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": "0060306",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060306"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49718-1",
            "uniprot_ac": "P49718",
            "uniprot_id": "MCM5_MOUSE",
            "refseq_ac": "NP_001289469",
            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA replication licensing factor MCM5",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.12",
                    "type": "synonym"
                },
                {
                    "name": "CDC46 homolog",
                    "type": "synonym"
                },
                {
                    "name": "DNA replication licensing factor MCM5",
                    "type": "synonym"
                },
                {
                    "name": "P1-CDC46",
                    "type": "synonym"
                },
                {
                    "name": "mini chromosome maintenance deficient 5",
                    "type": "synonym"
                },
                {
                    "name": "minichromosome maintenance deficient 5, cell division cycle 46",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mcm5",
                    "type": "recommended"
                },
                {
                    "name": "Cdc46",
                    "type": "synonym"
                },
                {
                    "name": "Mcm5",
                    "type": "synonym"
                },
                {
                    "name": "Mcmd5",
                    "type": "synonym"
                },
                {
                    "name": "P1-CDC46",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060306",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060306"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z1X9-1",
            "uniprot_ac": "Q9Z1X9",
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            "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"
                }
            ],
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                {
                    "name": "Cdc45",
                    "type": "recommended"
                },
                {
                    "name": "Cdc45l2",
                    "type": "synonym"
                },
                {
                    "name": "Cdc45l",
                    "type": "synonym"
                },
                {
                    "name": "Cdc45",
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                }
            ],
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                    "id": "0060306",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060306"
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            ]
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            "uniprot_canonical_ac": "Q9CY94-1",
            "uniprot_ac": "Q9CY94",
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                }
            ],
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                {
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                }
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                    "name": "2700085M18Rik",
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                    "id": "0060306",
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                    "name": "DNA replication factor CDC6",
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                    "type": "synonym"
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                    "name": "cell division control protein 6 homolog",
                    "type": "synonym"
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                    "name": "cell division cycle 6 homolog",
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                    "type": "synonym"
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                    "name": "Cdc6",
                    "type": "recommended"
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                    "name": "CDC18L",
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                    "name": "Cdc6",
                    "type": "synonym"
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                    "name": "p62(cdc6)",
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                {
                    "id": "0060306",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060306"
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            "uniprot_canonical_ac": "Q13415-1",
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                    "name": "Homo sapiens",
                    "taxid": 9606,
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                {
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                    "name": "replication control protein 1",
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                {
                    "name": "ORC1L",
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                    "name": "ORC1",
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                {
                    "name": "PARC1",
                    "type": "synonym"
                }
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                {
                    "id": "224690",
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                    "taxid": 559292,
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            ],
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                {
                    "name": "Origin recognition complex subunit 6",
                    "type": "recommended"
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                {
                    "name": "ACS-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Origin recognition complex 50 kDa subunit",
                    "type": "synonym"
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                {
                    "name": "origin recognition complex subunit 6",
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                    "name": "ORC6",
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                    "name": "AAP1",
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                    "id": "0060306",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060306"
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                    "id": "0060306",
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                }
            ],
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                {
                    "name": "Cell division control protein 45",
                    "type": "recommended"
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                {
                    "name": "DNA replication initiation factor CDC45",
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                }
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                {
                    "name": "CDC45",
                    "type": "recommended"
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                {
                    "name": "CDC45",
                    "type": "synonym"
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                {
                    "name": "L8004.11",
                    "type": "synonym"
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                    "name": "SLD4",
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                    "id": "0060306",
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                {
                    "name": "l(2)37Ff",
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                {
                    "name": "l(2)IG76",
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                {
                    "name": "mor2",
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                {
                    "name": "scw",
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            ],
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                {
                    "name": "Drosophila melanogaster",
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            ],
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                    "name": "CG5562-PB",
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                {
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                    "id": "0060306",
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    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060306"
}