{
    "disease_id": "DOID:0090130",
    "recommended_name": {
        "id": "DOID:0090130",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090130",
        "name": "cortical dysplasia-focal epilepsy syndrome",
        "description": "A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36."
    },
    "synonyms": [
        {
            "id": "DOID:0090130",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090130",
            "name": "CDFE syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090130",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090130",
            "name": "CDFES",
            "description": ""
        },
        {
            "id": "DOID:0090130",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090130",
            "name": "PTHSL1",
            "description": ""
        },
        {
            "id": "DOID:0090130",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090130",
            "name": "Pitt-Hopkins-like syndrome-1",
            "description": ""
        },
        {
            "id": "MONDO:0012400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012400",
            "name": "cortical dysplasia-focal epilepsy syndrome",
            "description": "An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder."
        },
        {
            "id": "MONDO:0012400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012400",
            "name": "Pitt-Hopkins-like syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0012400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012400",
            "name": "CDFE syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012400",
            "name": "PTHSL1",
            "description": ""
        },
        {
            "id": "MONDO:0012400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012400",
            "name": "cortical dysplasia-focal epilepsy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012400",
            "name": "Pitt-Hopkins-like syndrome 1; PTHSL1",
            "description": ""
        },
        {
            "id": "MONDO:0012400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012400",
            "name": "CDFES",
            "description": ""
        },
        {
            "id": "MONDO:0012400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012400",
            "name": "cortical dysplasia-focal epilepsy syndrome; CDFES",
            "description": ""
        },
        {
            "id": "MIM:610042",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610042",
            "name": "Pitt-Hopkins-like syndrome 1",
            "description": "Pitt-Hopkins-like syndrome 1"
        }
    ]
}