{
    "disease_id": "DOID:0060488", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012589", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012589", 
            "name": "Pitt-Hopkins syndrome; PTHS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012589", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012589", 
            "name": "Pitt Hopkins syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012589", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012589", 
            "name": "PTHS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012589", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012589", 
            "name": "mental retardation, Syndromal, with intermittent hyperventilation"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012589", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012589", 
            "name": "encephalopathy, Severe epileptic, with autonomic dysfunction"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012589", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012589", 
            "name": "intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060488", 
        "description": "A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060488", 
        "name": "Pitt-Hopkins syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060488#disease-associations", 
            "id": "0060488", 
            "database": "Alliance of Genome Resources"
        }
    ]
}