{
    "disease_id": "DOID:0060488",
    "recommended_name": {
        "id": "DOID:0060488",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060488",
        "name": "Pitt-Hopkins syndrome",
        "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0012589",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012589",
            "name": "Pitt-Hopkins syndrome",
            "description": "Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing."
        },
        {
            "id": "MONDO:0012589",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012589",
            "name": "Pitt-Hopkins syndrome; PTHS",
            "description": ""
        },
        {
            "id": "MONDO:0012589",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012589",
            "name": "Pitt Hopkins syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012589",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012589",
            "name": "PTHS",
            "description": ""
        },
        {
            "id": "MONDO:0012589",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012589",
            "name": "Pitt-Hopkins syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012589",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012589",
            "name": "mental retardation, Syndromal, with intermittent hyperventilation",
            "description": ""
        },
        {
            "id": "MONDO:0012589",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012589",
            "name": "encephalopathy, Severe epileptic, with autonomic dysfunction",
            "description": ""
        },
        {
            "id": "MONDO:0012589",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012589",
            "name": "intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea",
            "description": ""
        },
        {
            "id": "MIM:610954",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610954",
            "name": "Pitt-Hopkins syndrome",
            "description": "Pitt-Hopkins syndrome"
        }
    ]
}