{
    "disease_id": "DOID:0080922",
    "recommended_name": {
        "id": "DOID:0080922",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080922",
        "name": "bilateral frontoparietal polymicrogyria",
        "description": "A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0011738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011738",
            "name": "bilateral frontoparietal polymicrogyria",
            "description": "A descriptive term reflecting increased gyral folding in the frontoparietal regions as determined by magnetic resonance imaging. It has subsequently been shown to represent a cobblestone malformation on histopathology. BFPP typically presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non-progressive cerebellar ataxia, deconjugate gaze, and/or strabismus."
        },
        {
            "id": "MONDO:0011738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011738",
            "name": "bilateral frontoparietal polymicrogyria",
            "description": ""
        },
        {
            "id": "MONDO:0011738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011738",
            "name": "BFPP",
            "description": ""
        },
        {
            "id": "MONDO:0011738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011738",
            "name": "cerebellar ataxia with neuronal migration defect",
            "description": ""
        },
        {
            "id": "MONDO:0011738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011738",
            "name": "polymicrogyria, bilateral frontoparietal",
            "description": ""
        },
        {
            "id": "MIM:606854",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606854",
            "name": "Cortical dysplasia, complex, with other brain malformations 14A (bilateral frontoparietal)",
            "description": "Cortical dysplasia, complex, with other brain malformations 14A (bilateral frontoparietal)"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080922"
    ],
    "unlinked_id_list": []
}