{
    "disease_id": "DOID:0110740",
    "recommended_name": {
        "id": "DOID:0110740",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110740",
        "name": "neurodegeneration with brain iron accumulation 6",
        "description": "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2."
    },
    "synonyms": [
        {
            "id": "DOID:0110740",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110740",
            "name": "Neurodegeneration with brain iron accumulation due to COASY mutation",
            "description": ""
        },
        {
            "id": "DOID:0110740",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110740",
            "name": "CoPAN",
            "description": ""
        },
        {
            "id": "DOID:0110740",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110740",
            "name": "NBIA6",
            "description": ""
        },
        {
            "id": "DOID:0110740",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110740",
            "name": "COASY protein-associated neurodegeneration",
            "description": ""
        },
        {
            "id": "MONDO:0014290",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014290",
            "name": "neurodegeneration with brain iron accumulation 6",
            "description": "COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder."
        },
        {
            "id": "MONDO:0014290",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014290",
            "name": "COASY neurodegeneration with brain iron accumulation",
            "description": ""
        },
        {
            "id": "MONDO:0014290",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014290",
            "name": "CoPAN",
            "description": ""
        },
        {
            "id": "MONDO:0014290",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014290",
            "name": "NBIA6",
            "description": ""
        },
        {
            "id": "MONDO:0014290",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014290",
            "name": "neurodegeneration with brain iron accumulation 6",
            "description": ""
        },
        {
            "id": "MONDO:0014290",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014290",
            "name": "neurodegeneration with brain iron accumulation caused by mutation in COASY",
            "description": ""
        },
        {
            "id": "MONDO:0014290",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014290",
            "name": "neurodegeneration with brain iron accumulation due to COASY mutation",
            "description": ""
        },
        {
            "id": "MONDO:0014290",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014290",
            "name": "neurodegeneration with brain iron accumulation type 6",
            "description": ""
        },
        {
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            "resource": "MIM",
            "url": "https://www.omim.org/entry/615643",
            "name": "Neurodegeneration with brain iron accumulation 6",
            "description": "Neurodegeneration with brain iron accumulation 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110740"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110740",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110740",
            "categories": []
        },
        {
            "id": "MONDO:0014290",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014290",
            "categories": []
        },
        {
            "id": "MIM:615643",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615643",
            "categories": []
        }
    ],
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            "uniprot_ac": "Q0P4C4",
            "uniprot_id": "DCAKD_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
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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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                    "type": "recommended"
                },
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                    "name": "3010024O21Rik",
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                },
                {
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                {
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                }
            ],
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                    "id": "0110740",
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            ]
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        {
            "uniprot_canonical_ac": "Q13057-1",
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            ],
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                },
                {
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                },
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                    "name": "Pantetheine-phosphate adenylyltransferase",
                    "type": "synonym"
                },
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                    "name": "bifunctional coenzyme A synthase",
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                    "type": "synonym"
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                {
                    "name": "nucleotide binding protein",
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                },
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                }
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                    "type": "recommended"
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                    "name": "PSEC0106",
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                    "id": "0110740",
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            ]
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                    "name": "Dmel\\CG10575",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Dephospho-CoA kinase domain-containing protein",
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                {
                    "name": "dephospho-CoA kinase domain-containing protein",
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                }
            ],
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                    "name": "DCAKD",
                    "type": "recommended"
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                {
                    "name": "DCAKD",
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            ],
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                {
                    "id": "0110740",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110740"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110740"
}