{
    "disease_id": "DOID:0050719",
    "recommended_name": {
        "id": "DOID:0050719",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050719",
        "name": "cerebral folate receptor alpha deficiency",
        "description": "A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy."
    },
    "synonyms": [
        {
            "id": "DOID:0050719",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050719",
            "name": "Neurodegeneration due to cerebral folate transport deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013110",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013110",
            "name": "neurodegenerative syndrome due to cerebral folate transport deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013110",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013110",
            "name": "neurodegenerative syndrome due to cerebral folate transport deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013110",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013110",
            "name": "cerebral folate deficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013110",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013110",
            "name": "cerebral folate transport deficiency",
            "description": ""
        },
        {
            "id": "MIM:613068",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613068",
            "name": "Neurodegeneration due to cerebral folate transport deficiency",
            "description": "Neurodegeneration due to cerebral folate transport deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050719"
    ],
    "unlinked_id_list": []
}