{
    "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": ""
        },
        {
            "id": "MIM:615643",
            "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": []
}