{
    "disease_id": "DOID:0080948",
    "recommended_name": {
        "id": "DOID:0080948",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080948",
        "name": "agenesis of corpus callosum, cardiac, ocular, and genital syndrome",
        "description": "A syndrome that is characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12."
    },
    "synonyms": [
        {
            "id": "MONDO:0030065",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030065",
            "name": "agenesis of corpus callosum, cardiac, ocular, and genital syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0030065",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030065",
            "name": "ACOGS",
            "description": ""
        },
        {
            "id": "MONDO:0030065",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030065",
            "name": "AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME",
            "description": ""
        },
        {
            "id": "MONDO:0030065",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030065",
            "name": "agenesis of corpus callosum, cardiac, ocular, and genital syndrome",
            "description": ""
        },
        {
            "id": "MIM:618929",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618929",
            "name": "Agenesis of corpus callosum, cardiac, ocular, and genital syndrome",
            "description": "Agenesis of corpus callosum, cardiac, ocular, and genital syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080948"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080948",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080948",
            "categories": []
        },
        {
            "id": "MONDO:0030065",
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            "url": "https://monarchinitiative.org/disease/MONDO:0030065",
            "categories": []
        },
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            "url": "https://www.omim.org/entry/618929",
            "categories": []
        }
    ],
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            "uniprot_ac": "Q90275",
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                    "glygen_name": "Zebrafish",
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                }
            ],
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                    "type": "recommended"
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                    "name": "N-cadherin",
                    "type": "synonym"
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                    "type": "synonym"
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                    "name": "Parachute",
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                    "type": "synonym"
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                    "name": "glass onion",
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                    "type": "synonym"
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                    "type": "synonym"
                },
                {
                    "name": "neural cadherin",
                    "type": "synonym"
                },
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                    "name": "parachute",
                    "type": "synonym"
                }
            ],
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                    "name": "cdh2",
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                },
                {
                    "name": "bib",
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                    "name": "cdh2",
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                },
                {
                    "name": "glo",
                    "type": "synonym"
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                    "name": "lyr",
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                },
                {
                    "name": "ncad",
                    "type": "synonym"
                },
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                    "name": "pac",
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                    "name": "wu:fb47h04",
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            ],
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                },
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                    "name": "ACOGS",
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                },
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                    "name": "ADHD8",
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                    "name": "ARVD14",
                    "type": "synonym"
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                    "name": "CD325",
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                },
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                    "type": "synonym"
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                    "name": "CDHN",
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                },
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                    "name": "CDw325",
                    "type": "synonym"
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                    "name": "NCAD",
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                }
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                    "name": "Rattus norvegicus",
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                    "name": "ECadherin",
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                    "name": "Protein shotgun",
                    "type": "synonym"
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                    "name": "compaction defects 5",
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                    "name": "drosophila epithelial cadherin",
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                    "name": "drosophila melanogaster epithelial (DE)-cadherin",
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                    "name": "e-cadherin",
                    "type": "synonym"
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                    "name": "eta-catenin",
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                    "name": "shg-PA",
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                    "name": "CT12481",
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                    "name": "DE Cadh",
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                    "name": "DE Cad",
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                    "type": "synonym"
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                    "name": "com5",
                    "type": "synonym"
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                    "name": "dE-cadherin",
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                    "type": "synonym"
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                    "name": "de-cad",
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                    "name": "ecad",
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                    "name": "gp150",
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                    "name": "l(2)10469",
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                    "name": "l(2)k03401",
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                    "name": "l(2)k10220",
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                    "name": "shg/DE-Cad",
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                    "name": "shg",
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                    "id": "0080948",
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            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080948"
}