{
    "disease_id": "DOID:0060668",
    "recommended_name": {
        "id": "DOID:0060668",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060668",
        "name": "anencephaly",
        "description": "A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp."
    },
    "synonyms": [
        {
            "id": "MONDO:0008791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008791",
            "name": "anencephaly 1",
            "description": "Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days."
        },
        {
            "id": "MONDO:0008791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008791",
            "name": "ANPH",
            "description": ""
        },
        {
            "id": "MONDO:0008791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008791",
            "name": "anencephaly",
            "description": ""
        },
        {
            "id": "MONDO:0008791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008791",
            "name": "anencephaly 1",
            "description": ""
        },
        {
            "id": "MONDO:0008791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008791",
            "name": "isolated anencephaly/exencephaly",
            "description": ""
        },
        {
            "id": "MONDO:0008791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008791",
            "name": "absence of a large part of the brain and the skull",
            "description": ""
        },
        {
            "id": "MIM:206500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/206500",
            "name": "Anencephaly 1",
            "description": "Anencephaly 1"
        }
    ],
    "children": [
        {
            "id": "DOID:4626",
            "label": "hydranencephaly",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0060668",
        "DOID:4626"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060668",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060668",
            "categories": []
        },
        {
            "id": "MONDO:0008791",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008791",
            "categories": []
        },
        {
            "id": "MIM:206500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/206500",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "A0AB32TJB3",
            "uniprot_id": "A0AB32TJB3_DANRE",
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                    "taxid": 7955,
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                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Protein fantom isoform X1",
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                }
            ],
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                    "type": "synonym"
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                {
                    "name": "si:ch1073-301i20.1",
                    "type": "synonym"
                }
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                {
                    "id": "0060668",
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                }
            ]
        },
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                }
            ],
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                {
                    "name": "non-specific serine/threonine protein kinase",
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                }
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                    "name": "Methionine synthase reductase",
                    "type": "recommended"
                },
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                {
                    "name": "Aquacobalamin reductase",
                    "type": "synonym"
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
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                {
                    "name": "2.3.2.27",
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                }
            ],
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                {
                    "name": "trim36",
                    "type": "recommended"
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                {
                    "name": "trim36",
                    "type": "synonym"
                },
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                    "name": "wu:fj48f01",
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                },
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                    "name": "zgc:153447",
                    "type": "synonym"
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                {
                    "name": "zgc:63476",
                    "type": "synonym"
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            ],
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                    "id": "0060668",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1RCN2-1",
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            "glycoprotein": "yes",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Chromatin remodeling regulator CECR2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "chromatin remodeling regulator CECR2 isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "cecr2",
                    "type": "recommended"
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                    "id": "0060668",
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                }
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                    "id": "0060668",
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            ],
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                {
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                },
                {
                    "name": "cat eye syndrome critical region protein 2 homolog",
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                {
                    "name": "chromatin remodeling regulator CECR2 isoform 1",
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                    "name": "chromatin remodeling regulator CECR2",
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                    "id": "0060668",
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            ],
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    ],
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    "association_flag": "1000",
    "record_id": "doid.0060668"
}