{
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012400", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012400", 
            "name": "Pitt-Hopkins-like syndrome 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012400", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012400", 
            "name": "CDFE syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012400", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012400", 
            "name": "PTHSL1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012400", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012400", 
            "name": "Pitt-Hopkins-like syndrome 1; PTHSL1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012400", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012400", 
            "name": "CDFES"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012400", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012400", 
            "name": "cortical dysplasia-focal epilepsy syndrome; CDFES"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090130", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090130", 
            "name": "CDFE syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090130", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090130", 
            "name": "CDFES"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090130", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090130", 
            "name": "PTHSL1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090130", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090130", 
            "name": "Pitt-Hopkins-like syndrome-1"
        }, 
        {
            "url": "https://www.omim.org/entry/610042", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:610042", 
            "name": "Pitt-Hopkins-like syndrome 1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0090130", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0090130", 
        "name": "cortical dysplasia-focal epilepsy syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/610042", 
            "id": "610042", 
            "database": "MIM"
        }
    ]
}