{
    "disease_id": "DOID:0061008",
    "recommended_name": {
        "id": "DOID:0061008",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061008",
        "name": "craniosynostosis 6",
        "description": "A craniosynostosis that has_material_basis_in heterozygous mutation in the ZIC1 gene on chromosome 3q24."
    },
    "synonyms": [
        {
            "id": "DOID:0061008",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061008",
            "name": "CRS6",
            "description": ""
        },
        {
            "id": "MONDO:0014705",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014705",
            "name": "craniosynostosis 6",
            "description": "Any craniosynostosis in which the cause of the disease is a mutation in the ZIC1 gene."
        },
        {
            "id": "MONDO:0014705",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014705",
            "name": "ZIC1 craniosynostosis",
            "description": ""
        },
        {
            "id": "MONDO:0014705",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014705",
            "name": "craniosynostosis 6",
            "description": ""
        },
        {
            "id": "MONDO:0014705",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014705",
            "name": "craniosynostosis caused by mutation in ZIC1",
            "description": ""
        },
        {
            "id": "MONDO:0014705",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014705",
            "name": "craniosynostosis type 6",
            "description": ""
        },
        {
            "id": "MONDO:0014705",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014705",
            "name": "CRS6",
            "description": ""
        },
        {
            "id": "MIM:616602",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616602",
            "name": "Craniosynostosis 6",
            "description": "Craniosynostosis 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061008"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061008",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061008",
            "categories": []
        },
        {
            "id": "MONDO:0014705",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014705",
            "categories": []
        },
        {
            "id": "MIM:616602",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616602",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P46684-1",
            "uniprot_ac": "P46684",
            "uniprot_id": "ZIC1_MOUSE",
            "refseq_ac": "NP_033599",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein ZIC 1",
                    "type": "recommended"
                },
                {
                    "name": "Zic family member 1 (odd-paired homolog, Drosophila)",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein of the cerebellum 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein ZIC 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zic1",
                    "type": "recommended"
                },
                {
                    "name": "ZIC",
                    "type": "synonym"
                },
                {
                    "name": "ZNF201",
                    "type": "synonym"
                },
                {
                    "name": "Zic1",
                    "type": "synonym"
                },
                {
                    "name": "Zic",
                    "type": "synonym"
                }
            ],
            "record_id": "P46684-1",
            "evidence": [
                {
                    "id": "0061008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15915-1",
            "uniprot_ac": "Q15915",
            "uniprot_id": "ZIC1_HUMAN",
            "refseq_ac": "NP_003403",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein ZIC 1",
                    "type": "recommended"
                },
                {
                    "name": "Zic family member 1 (odd-paired homolog, Drosophila)",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein 201",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein of the cerebellum 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 201",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein ZIC 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ZIC1",
                    "type": "recommended"
                },
                {
                    "name": "BAIDCS",
                    "type": "synonym"
                },
                {
                    "name": "CRS6",
                    "type": "synonym"
                },
                {
                    "name": "ZIC1",
                    "type": "synonym"
                },
                {
                    "name": "ZIC",
                    "type": "synonym"
                },
                {
                    "name": "ZNF201",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15915-1",
            "evidence": [
                {
                    "id": "616602",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616602"
                },
                {
                    "id": "0061008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061008"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061008"
}
