{
    "disease_id": "DOID:0070050",
    "recommended_name": {
        "id": "DOID:0070050",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070050",
        "name": "neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language",
        "description": "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities and 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": "autosomal dominant mental retardation 20",
            "description": ""
        },
        {
            "id": "DOID:0070050",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070050",
            "name": "mental retardation, autosomal dominant 20",
            "description": ""
        },
        {
            "id": "MONDO:0016456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016456",
            "name": "5q14.3 microdeletion syndrome",
            "description": "The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy."
        },
        {
            "id": "MONDO:0016456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016456",
            "name": "5q14.3 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0016456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016456",
            "name": "monosomy 5q14.3",
            "description": ""
        },
        {
            "id": "MONDO:0016456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016456",
            "name": "Del(5)(q14.3)",
            "description": ""
        },
        {
            "id": "MONDO:0016456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016456",
            "name": "chromosome 5q14.3 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0016456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016456",
            "name": "autosomal dominant intellectual disability 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": "MRD20",
            "description": ""
        },
        {
            "id": "MONDO:0013266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013266",
            "name": "intellectual disability, autosomal dominant type 20",
            "description": ""
        },
        {
            "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": "chromosome 5q14.3 deletion syndrome",
            "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": "chromosome 5Q14.3 deletion syndrome, proximal",
            "description": ""
        },
        {
            "id": "MONDO:0013266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013266",
            "name": "intellectual disability, autosomal dominant 20",
            "description": ""
        },
        {
            "id": "MONDO:0013266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013266",
            "name": "neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language",
            "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, stereotypic movements, epilepsy, and/or cerebral malformations",
            "description": ""
        },
        {
            "id": "MONDO:0013266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013266",
            "name": "intellectual disability, stereotypic movements, epilepsy, and/or cerebral malformations",
            "description": ""
        },
        {
            "id": "MONDO:0013266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013266",
            "name": "autosomal dominant intellectual disability 20",
            "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": "mental retardation, autosomal dominant 20",
            "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"
        },
        {
            "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"
        }
    ]
}