{
    "disease_id": "DOID:0070755",
    "recommended_name": {
        "id": "DOID:0070755",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070755",
        "name": "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy",
        "description": "An autosomal recessive intellectual developmental disorder characterized by severe global developmental delay with poor motor and intellectual function apparent soon after birth; postnatal progressive microcephaly; and early-onset, frequent, and often intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the VARS1 gene on chromosome 6p21."
    },
    "synonyms": [
        {
            "id": "DOID:0070755",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070755",
            "name": "NDMSCA",
            "description": ""
        },
        {
            "id": "MONDO:0060621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060621",
            "name": "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0060621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060621",
            "name": "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0060621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060621",
            "name": "NDMSCA",
            "description": ""
        },
        {
            "id": "MIM:617802",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617802",
            "name": "Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy",
            "description": "Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070755"
    ],
    "unlinked_id_list": []
}
