{
    "disease_id": "DOID:0050569",
    "recommended_name": {
        "id": "DOID:0050569",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050569",
        "name": "Seckel syndrome",
        "description": "A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability."
    },
    "synonyms": [
        {
            "id": "DOID:0050569",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050569",
            "name": "Harper's syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050569",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050569",
            "name": "Virchow-Seckel dwarfism",
            "description": ""
        },
        {
            "id": "DOID:0050569",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050569",
            "name": "bird-headed dwarfism",
            "description": ""
        },
        {
            "id": "DOID:0050569",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050569",
            "name": "microcephalic primordial dwarfism",
            "description": ""
        },
        {
            "id": "MONDO:0008869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008869",
            "name": "Seckel syndrome 1",
            "description": "Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene."
        },
        {
            "id": "MONDO:0008869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008869",
            "name": "ATR Seckel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008869",
            "name": "SCKL1",
            "description": ""
        },
        {
            "id": "MONDO:0008869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008869",
            "name": "Seckel syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0008869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008869",
            "name": "Seckel syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0008869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008869",
            "name": "Seckel syndrome caused by mutation in ATR",
            "description": ""
        },
        {
            "id": "MONDO:0008869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008869",
            "name": "Seckel syndrome type 1",
            "description": ""
        },
        {
            "id": "MIM:210600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/210600",
            "name": "Seckel syndrome 1",
            "description": "Seckel syndrome 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0070005",
            "label": "Seckel syndrome 9",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070006",
            "label": "Seckel syndrome 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070007",
            "label": "Seckel syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070008",
            "label": "Seckel syndrome 10",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070009",
            "label": "Seckel syndrome 8",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070010",
            "label": "Seckel syndrome 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070011",
            "label": "Seckel syndrome 7",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070012",
            "label": "Seckel syndrome 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070013",
            "label": "Seckel syndrome 2",
            "link_status": true,
            "children": []
        }
    ],
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        "DOID:0070012",
        "DOID:0070005",
        "DOID:0070009",
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        "DOID:0070010",
        "DOID:0070008",
        "DOID:0070006",
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    ],
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        {
            "id": "DOID:0050569",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050569",
            "categories": []
        },
        {
            "id": "MONDO:0008869",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008869",
            "categories": []
        },
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            "database": "MIM",
            "url": "https://www.omim.org/entry/210600",
            "categories": []
        }
    ],
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                }
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                }
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                    "type": "recommended"
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                {
                    "name": "cdk5rap2",
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                },
                {
                    "name": "cep215",
                    "type": "synonym"
                },
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                    "name": "fi74c05",
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                {
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                }
            ],
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                {
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                },
                {
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                    "id": "0050569",
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                }
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            "uniprot_canonical_ac": "A0AB32TCL1-1",
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                    "name": "si:dkey-42i9.5",
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                    "id": "0050569",
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                }
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            "uniprot_ac": "Q6PGZ0",
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                }
            ],
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                    "name": "Centrosomal protein of 63 kDa",
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                {
                    "name": "centrosomal protein of 63 kDa",
                    "type": "synonym"
                }
            ],
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                    "type": "recommended"
                },
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                {
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                    "id": "0050569",
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                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
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                    "name": "Mus musculus",
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                }
            ],
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                    "id": "0050569",
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                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "DNA replication ATP-dependent helicase/nuclease DNA2",
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                    "name": "DNA 5'-3' helicase DNA2",
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                },
                {
                    "name": "DNA replication ATP-dependent helicase-like homolog",
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                },
                {
                    "name": "DNA replication ATP-dependent helicase/nuclease DNA2",
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                },
                {
                    "name": "DNA replication helicase 2 homolog",
                    "type": "synonym"
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                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Centrosomin",
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                    "name": "CDK5RAP2",
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                },
                {
                    "name": "CG4832-PG",
                    "type": "synonym"
                },
                {
                    "name": "Protein arrow",
                    "type": "synonym"
                },
                {
                    "name": "centrosmin",
                    "type": "synonym"
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                {
                    "name": "centrosomin, isoform G",
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                },
                {
                    "name": "centrosomin",
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                {
                    "name": "cnn-PG",
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                },
                {
                    "name": "maternal effect syncytial blastoderm arrest C",
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                },
                {
                    "name": "oblivious",
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                }
            ],
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                    "name": "cnn",
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                    "name": "Arr",
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                    "name": "CG 4832",
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                {
                    "name": "CG18370",
                    "type": "synonym"
                },
                {
                    "name": "CG4832",
                    "type": "synonym"
                },
                {
                    "name": "CNN",
                    "type": "synonym"
                },
                {
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                },
                {
                    "name": "Cnn",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4832",
                    "type": "synonym"
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                {
                    "name": "Dmel_CG4832",
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                {
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                {
                    "name": "cnn",
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                },
                {
                    "name": "mat(2)syn-C",
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                },
                {
                    "name": "mat(2)synHK21",
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                },
                {
                    "name": "mfs",
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                },
                {
                    "name": "obv",
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                }
            ],
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                {
                    "id": "0050569",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050569"
                }
            ]
        },
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            ],
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                {
                    "name": "tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit wuho",
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                },
                {
                    "name": "CG15897-PA",
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                {
                    "name": "protein wuho",
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                {
                    "name": "wuho-PA",
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                {
                    "name": "wuho",
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                }
            ],
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                {
                    "name": "wuho",
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                },
                {
                    "name": "CG15897",
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                },
                {
                    "name": "Dmel\\CG15897",
                    "type": "synonym"
                },
                {
                    "name": "Wuho",
                    "type": "synonym"
                },
                {
                    "name": "wh",
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                },
                {
                    "name": "wuho",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W415-1",
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                {
                    "id": "0050569",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050569"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IRL9-1",
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                {
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "DNA replication ATP-dependent helicase/nuclease",
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                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "3.6.4.12",
                    "type": "synonym"
                },
                {
                    "name": "CG2990-PB",
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                },
                {
                    "name": "DNA helicase",
                    "type": "synonym"
                },
                {
                    "name": "DNA replication helicase/nuclease 2, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Dna2-PB",
                    "type": "synonym"
                },
                {
                    "name": "mutagen-sensitive 109",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Dna2",
                    "type": "recommended"
                },
                {
                    "name": "CG2990",
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                },
                {
                    "name": "DNA2",
                    "type": "synonym"
                },
                {
                    "name": "DmDNA2",
                    "type": "synonym"
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                {
                    "name": "Dmel\\CG2990",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2990",
                    "type": "synonym"
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                {
                    "name": "Dna2",
                    "type": "synonym"
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                {
                    "name": "l(1)19-65",
                    "type": "synonym"
                },
                {
                    "name": "l(1)9Aa",
                    "type": "synonym"
                },
                {
                    "name": "mus(1)107",
                    "type": "synonym"
                },
                {
                    "name": "mus(1)109",
                    "type": "synonym"
                },
                {
                    "name": "mus-109",
                    "type": "synonym"
                },
                {
                    "name": "mus107",
                    "type": "synonym"
                },
                {
                    "name": "mus109",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IRL9-1",
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                {
                    "id": "0050569",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050569"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VI72-1",
            "uniprot_ac": "Q9VI72",
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            "glycoprotein": "yes",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "CG10061-PA",
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                },
                {
                    "name": "DSas-4",
                    "type": "synonym"
                },
                {
                    "name": "Sas-4-PA",
                    "type": "synonym"
                },
                {
                    "name": "Spindle assembly abnormal 4",
                    "type": "synonym"
                },
                {
                    "name": "drosophila Sas-4",
                    "type": "synonym"
                },
                {
                    "name": "spindle assembly abnormal 4 orthologue",
                    "type": "synonym"
                },
                {
                    "name": "spindle assembly abnormal 4 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "spindle assembly abnormal 4",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Sas-4",
                    "type": "recommended"
                },
                {
                    "name": "CENPJ",
                    "type": "synonym"
                },
                {
                    "name": "CG10061",
                    "type": "synonym"
                },
                {
                    "name": "CPAP",
                    "type": "synonym"
                },
                {
                    "name": "D-Sas4",
                    "type": "synonym"
                },
                {
                    "name": "D-sas4",
                    "type": "synonym"
                },
                {
                    "name": "DSAS-4",
                    "type": "synonym"
                },
                {
                    "name": "DSas-4",
                    "type": "synonym"
                },
                {
                    "name": "DSas4",
                    "type": "synonym"
                },
                {
                    "name": "DmSas4",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10061",
                    "type": "synonym"
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                {
                    "name": "Dmel_CG10061",
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                {
                    "name": "Dsas-4",
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                },
                {
                    "name": "Dsas4",
                    "type": "synonym"
                },
                {
                    "name": "SAS-4",
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                },
                {
                    "name": "SAS4",
                    "type": "synonym"
                },
                {
                    "name": "Sas-4",
                    "type": "synonym"
                },
                {
                    "name": "Sas4",
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                },
                {
                    "name": "d-SAS-4",
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                },
                {
                    "name": "dCPAP",
                    "type": "synonym"
                },
                {
                    "name": "dsas-4",
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                {
                    "name": "l(3)S2214",
                    "type": "synonym"
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                {
                    "name": "l(3)s2214",
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                {
                    "name": "sas-4",
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                },
                {
                    "name": "sas4",
                    "type": "synonym"
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            ],
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                {
                    "id": "0050569",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050569"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXG8-1",
            "uniprot_ac": "Q9VXG8",
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            "refseq_ac": "NP_523369",
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                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
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                {
                    "name": "2.7.11.1",
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                {
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                {
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                {
                    "name": "Ataxia telangiectasia and Rad3-related protein homolog",
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                {
                    "name": "CG4252-PA",
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                {
                    "name": "Meiotic protein 41",
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                {
                    "name": "ataxia telangiectasia and Rad3 related",
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                {
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                {
                    "name": "drosophila ATR",
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                {
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                {
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                {
                    "name": "meiotic-41",
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                {
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                {
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                {
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                {
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                {
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                {
                    "name": "Mei-41/DATR",
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                {
                    "name": "Mei-41",
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                {
                    "name": "Mei41",
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                {
                    "name": "atr",
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                {
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                {
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                {
                    "name": "mei-195",
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                {
                    "name": "mei-41",
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                {
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                {
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                {
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                {
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                {
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                {
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                {
                    "name": "mus103",
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                {
                    "name": "mus104",
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            ],
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                }
            ]
        },
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                }
            ],
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                {
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                {
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                {
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                {
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                {
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                {
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                    "id": "0050569",
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            ]
        },
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            ],
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                {
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                {
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                {
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                {
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                {
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                {
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                {
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                    "id": "0050569",
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                }
            ]
        },
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            "uniprot_canonical_ac": "Q96BT3-1",
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                }
            ],
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                {
                    "name": "Interphase centromere complex protein 22",
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                },
                {
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                {
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                }
            ],
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                {
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                {
                    "name": "CENPT",
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                {
                    "name": "ICEN22",
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                },
                {
                    "name": "SSMGA",
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                }
            ],
            "record_id": "Q96BT3-1",
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                    "id": "0050569",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050569"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HC77-1",
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                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
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                {
                    "name": "Centromere protein J",
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                },
                {
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                },
                {
                    "name": "LAG-3-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "LYST-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "LYST-interacting protein LIP1",
                    "type": "synonym"
                },
                {
                    "name": "LYST-interacting protein LIP7",
                    "type": "synonym"
                },
                {
                    "name": "Spindle assembly abnormal 4",
                    "type": "synonym"
                },
                {
                    "name": "centromere protein J",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal P4.1-associated protein",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "CPAP",
                    "type": "recommended"
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                {
                    "name": "BM032",
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                },
                {
                    "name": "CENP-J",
                    "type": "synonym"
                },
                {
                    "name": "CENPJ",
                    "type": "synonym"
                },
                {
                    "name": "CPAP",
                    "type": "synonym"
                },
                {
                    "name": "LAP",
                    "type": "synonym"
                },
                {
                    "name": "LIP1",
                    "type": "synonym"
                },
                {
                    "name": "MCPH6",
                    "type": "synonym"
                },
                {
                    "name": "SASS4",
                    "type": "synonym"
                },
                {
                    "name": "SCKL4",
                    "type": "synonym"
                },
                {
                    "name": "Sas-4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HC77-1",
            "evidence": [
                {
                    "id": "0050569",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050569"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WXE1-1",
            "uniprot_ac": "Q8WXE1",
            "uniprot_id": "ATRIP_HUMAN",
            "refseq_ac": "NP_001257951",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATR-interacting protein",
                    "type": "recommended"
                },
                {
                    "name": "ATM and Rad3-related-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "ATR-interacting protein isoform 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATRIP",
                    "type": "recommended"
                },
                {
                    "name": "AGS1",
                    "type": "synonym"
                },
                {
                    "name": "ATRIP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WXE1-1",
            "evidence": [
                {
                    "id": "0050569",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050569"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96MT8-1",
            "uniprot_ac": "Q96MT8",
            "uniprot_id": "CEP63_HUMAN",
            "refseq_ac": "NP_001035842",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 63 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Cep63",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein 63kDa",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 63 kDa isoform c",
                    "type": "synonym"
                },
                {
                    "name": "centrosome protein CEP63",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CEP63",
                    "type": "recommended"
                },
                {
                    "name": "CEP63",
                    "type": "synonym"
                },
                {
                    "name": "SCKL6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96MT8-1",
            "evidence": [
                {
                    "id": "0050569",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050569"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96SN8-1",
            "uniprot_ac": "Q96SN8",
            "uniprot_id": "CK5P2_HUMAN",
            "refseq_ac": "NP_001011649",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "CDK5 regulatory subunit-associated protein 2",
                    "type": "recommended"
                },
                {
                    "name": "CDK5 activator-binding protein C48",
                    "type": "synonym"
                },
                {
                    "name": "CDK5 regulatory subunit-associated protein 2 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "Centrosome-associated protein 215",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein 215 kDa",
                    "type": "synonym"
                },
                {
                    "name": "centrosomin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDK5RAP2",
                    "type": "recommended"
                },
                {
                    "name": "C48",
                    "type": "synonym"
                },
                {
                    "name": "CDK5RAP2",
                    "type": "synonym"
                },
                {
                    "name": "CEP215",
                    "type": "synonym"
                },
                {
                    "name": "Cep215",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1633",
                    "type": "synonym"
                },
                {
                    "name": "MCPH3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96SN8-1",
            "evidence": [
                {
                    "id": "0050569",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050569"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050569"
}