{
    "disease_id": "DOID:0080922",
    "recommended_name": {
        "id": "DOID:0080922",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080922",
        "name": "complex cortical dysplasia with other brain malformations 14A",
        "description": "A complex cortical dysplasia with other brain malformations that is characterized by a global developmental delay with impaired intellectual development, motor delay, poor speech development, and early-onset seizures, often focal or atypical absence and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21."
    },
    "synonyms": [
        {
            "id": "DOID:0080922",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080922",
            "name": "bilateral frontoparietal polymicrogyria",
            "description": ""
        },
        {
            "id": "DOID:0080922",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080922",
            "name": "CDCBM14A",
            "description": ""
        },
        {
            "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": "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": []
}