{
    "disease_id": "DOID:0070050",
    "recommended_name": {
        "id": "DOID:0070050",
        "resource": "Disease Ontology",
        "url": "https://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 the MEF2C gene on chromosome 5q14.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070050",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070050",
            "name": "MRD20",
            "description": ""
        },
        {
            "id": "DOID:0070050",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070050",
            "name": "mental retardation, autosomal dominant 20",
            "description": ""
        },
        {
            "id": "DOID:0070050",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070050",
            "name": "autosomal dominant mental retardation 20",
            "description": ""
        },
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            "id": "MONDO:0013266",
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            "url": "https://monarchinitiative.org/disease/MONDO:0013266",
            "name": "neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language",
            "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 Deficiency",
            "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": "MEF2C haploinsufficiency syndrome (MCHS)",
            "description": ""
        },
        {
            "id": "MONDO:0013266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013266",
            "name": "MEF2C-related neurodevelopmental disorder",
            "description": ""
        },
        {
            "id": "MONDO:0013266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013266",
            "name": "MEF2C-related syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013266",
            "resource": "MONDO",
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            "name": "MRD20",
            "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": "intellectual disability, autosomal dominant 20",
            "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": "mental retardation, autosomal dominant 20",
            "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": "neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language",
            "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"
        }
    ],
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        {
            "id": "DOID:0070050",
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            "url": "https://disease-ontology.org/term/DOID:0070050",
            "categories": []
        },
        {
            "id": "MONDO:0013266",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013266",
            "categories": []
        },
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            "url": "https://www.omim.org/entry/613443",
            "categories": []
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                    "name": "Homo sapiens",
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    "biomarkers": [],
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}