{
    "disease_id": "DOID:0080473",
    "recommended_name": {
        "id": "DOID:0080473",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080473",
        "name": "developmental delay and seizures with or without movement abnormalities",
        "description": "A syndromic intellectual disability characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component that has_material_basis_in heterozygous mutation in the DHDDS gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "MONDO:0044326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044326",
            "name": "developmental delay and seizures with or without movement abnormalities",
            "description": "DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017})."
        },
        {
            "id": "MONDO:0044326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044326",
            "name": "developmental delay and seizures with or without movement abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0044326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044326",
            "name": "DEDSM",
            "description": ""
        },
        {
            "id": "MIM:617836",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617836",
            "name": "Developmental delay and seizures with or without movement abnormalities",
            "description": "Developmental delay and seizures with or without movement abnormalities"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080473"
    ],
    "unlinked_id_list": []
}