{
    "disease_id": "DOID:0070339",
    "recommended_name": {
        "id": "DOID:0070339",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070339",
        "name": "cerebellar hyplasia/atrophy, epilepsy, and global developmental delay",
        "description": "A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus."
    },
    "synonyms": [
        {
            "id": "MONDO:0008939",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008939",
            "name": "isolated cerebellar hypoplasia/agenesis",
            "description": "Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures."
        },
        {
            "id": "MONDO:0008939",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008939",
            "name": "isolated cerebellar agenesis",
            "description": ""
        },
        {
            "id": "MONDO:0008939",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008939",
            "name": "near total absence of cerebellum",
            "description": ""
        },
        {
            "id": "MONDO:0008939",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008939",
            "name": "Chiari 4 malformation",
            "description": ""
        },
        {
            "id": "MONDO:0008939",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008939",
            "name": "Chiari IV malformation",
            "description": ""
        },
        {
            "id": "MONDO:0008939",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008939",
            "name": "congenital cerebellar Hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008939",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008939",
            "name": "subtotal absence of cerebellum",
            "description": ""
        },
        {
            "id": "MONDO:0008939",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008939",
            "name": "cerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MIM:213000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/213000",
            "name": "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay",
            "description": "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay"
        }
    ]
}