{
    "disease_id": "DOID:0070039",
    "recommended_name": {
        "id": "DOID:0070039",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070039",
        "name": "NESCAV syndrome",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070039",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070039",
            "name": "MRD9",
            "description": ""
        },
        {
            "id": "DOID:0070039",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070039",
            "name": "autosomal dominant mental retardation 9",
            "description": ""
        },
        {
            "id": "DOID:0070039",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070039",
            "name": "NESCAVS",
            "description": ""
        },
        {
            "id": "DOID:0070039",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070039",
            "name": "autosomal dominant intellectual disability 9",
            "description": ""
        },
        {
            "id": "DOID:0070039",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070039",
            "name": "autosomal dominant non-syndromic intellectual disability 9",
            "description": ""
        },
        {
            "id": "DOID:0070039",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070039",
            "name": "neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment",
            "description": ""
        },
        {
            "id": "MONDO:0013656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013656",
            "name": "intellectual disability, autosomal dominant 9",
            "description": "An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity."
        },
        {
            "id": "MONDO:0013656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013656",
            "name": "KIF1A autosomal dominant non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0013656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013656",
            "name": "MRD9",
            "description": ""
        },
        {
            "id": "MONDO:0013656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013656",
            "name": "NESCAV syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013656",
            "name": "autosomal dominant non-syndromic intellectual disability caused by mutation in KIF1A",
            "description": ""
        },
        {
            "id": "MONDO:0013656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013656",
            "name": "intellectual disability, autosomal dominant 9",
            "description": ""
        },
        {
            "id": "MONDO:0013656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013656",
            "name": "intellectual disability, autosomal dominant type 9",
            "description": ""
        },
        {
            "id": "MONDO:0013656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013656",
            "name": "mental retardation, autosomal dominant type 9",
            "description": ""
        },
        {
            "id": "MONDO:0013656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013656",
            "name": "mental retardation, autosomal dominant 9",
            "description": ""
        },
        {
            "id": "MIM:614255",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614255",
            "name": "NESCAV syndrome",
            "description": "NESCAV syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070039"
    ],
    "unlinked_id_list": []
}