{
    "disease_id": "DOID:0070050",
    "recommended_name": {
        "id": "DOID:0070050",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070050",
        "name": "autosomal dominant mental retardation 20",
        "description": "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of MEF2C on chromosome 5q14.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070050",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070050",
            "name": "MRD20",
            "description": ""
        },
        {
            "id": "DOID:0070050",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070050",
            "name": "mental retardation, autosomal dominant 20",
            "description": ""
        },
        {
            "id": "MONDO:0013266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013266",
            "name": "intellectual disability, autosomal dominant 20",
            "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene."
        },
        {
            "id": "MONDO:0013266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013266",
            "name": "MEF2C autosomal dominant non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0013266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013266",
            "name": "mental retardation, autosomal dominant type 20",
            "description": ""
        },
        {
            "id": "MONDO:0013266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013266",
            "name": "mental retardation, autosomal dominant 20; MRD20",
            "description": ""
        },
        {
            "id": "MONDO:0013266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013266",
            "name": "chromosome 5Q14.3 deletion syndrome, proximal",
            "description": ""
        },
        {
            "id": "MONDO:0013266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013266",
            "name": "MRD20",
            "description": ""
        },
        {
            "id": "MONDO:0013266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013266",
            "name": "autosomal dominant mental retardation 20",
            "description": ""
        },
        {
            "id": "MONDO:0013266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013266",
            "name": "autosomal dominant non-syndromic intellectual disability caused by mutation in MEF2C",
            "description": ""
        },
        {
            "id": "MONDO:0013266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013266",
            "name": "mental retardation, autosomal dominant 20",
            "description": ""
        },
        {
            "id": "MONDO:0013266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013266",
            "name": "mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations",
            "description": ""
        },
        {
            "id": "MIM:613443",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613443",
            "name": "Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language",
            "description": "Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language"
        }
    ]
}