{
    "disease_id": "DOID:0060934",
    "recommended_name": {
        "id": "DOID:0060934",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060934",
        "name": "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy",
        "description": "An autosomal recessive intellectual developmental disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia that has_material_basis_in homozygous mutation in the TRAPPC6B gene on chromosome 14q21."
    },
    "synonyms": [
        {
            "id": "DOID:0060934",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060934",
            "name": "NEDMEBA",
            "description": ""
        },
        {
            "id": "MONDO:0060640",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060640",
            "name": "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0060640",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060640",
            "name": "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0060640",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060640",
            "name": "NEDMEBA",
            "description": ""
        },
        {
            "id": "MIM:617862",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617862",
            "name": "Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy",
            "description": "Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060934"
    ],
    "unlinked_id_list": []
}