{
    "disease_id": "DOID:0111262",
    "recommended_name": {
        "id": "DOID:0111262",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111262",
        "name": "infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly",
        "description": "A brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in MED17 on 11q21."
    },
    "synonyms": [
        {
            "id": "DOID:0111262",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111262",
            "name": "postnatal progressive microcephaly, seizures, and brain atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0013351",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013351",
            "name": "infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly",
            "description": "Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination."
        },
        {
            "id": "MONDO:0013351",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013351",
            "name": "microcephaly, postnatal progressive, with seizures and brain atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0013351",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013351",
            "name": "postnatal progressive microcephaly, seizures, and brain atrophy",
            "description": ""
        },
        {
            "id": "MIM:613668",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613668",
            "name": "Microcephaly, postnatal progressive, with seizures and brain atrophy",
            "description": "Microcephaly, postnatal progressive, with seizures and brain atrophy"
        }
    ]
}