{
    "disease_id": "DOID:0070512",
    "recommended_name": {
        "id": "DOID:0070512",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070512",
        "name": "neurodevelopmental disorder with hypotonia and speech delay",
        "description": "A syndrome characterized by global developmental delay, impaired intellectual development with poor or absent speech, and fine and gross motor delay that has_material_basis_in heterozygous or compound heterozygous mutation in the EIF4A2 gene on chromosome 3q27.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070512",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070512",
            "name": "NEDHSS",
            "description": ""
        },
        {
            "id": "MONDO:0957541",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957541",
            "name": "neurodevelopmental disorder with hypotonia and speech delay, with or without seizures",
            "description": ""
        },
        {
            "id": "MIM:620455",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620455",
            "name": "Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures",
            "description": "Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070512"
    ],
    "unlinked_id_list": []
}