{
    "disease_id": "DOID:0111332",
    "recommended_name": {
        "id": "DOID:0111332",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111332",
        "name": "Pitt-Hopkins-like syndrome 2",
        "description": "A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in NRXN1 on chromosome 2p16.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111332",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111332",
            "name": "PTHSL2",
            "description": ""
        },
        {
            "id": "MONDO:0013690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013690",
            "name": "Pitt-Hopkins-like syndrome 2",
            "description": "Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene."
        },
        {
            "id": "MONDO:0013690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013690",
            "name": "Pitt-Hopkins-like syndrome caused by mutation in NRXN1",
            "description": ""
        },
        {
            "id": "MONDO:0013690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013690",
            "name": "Pitt-Hopkins-like syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0013690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013690",
            "name": "NRXN1 Pitt-Hopkins-like syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013690",
            "name": "Pitt-Hopkins-like syndrome 2; PTHSL2",
            "description": ""
        },
        {
            "id": "MONDO:0013690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013690",
            "name": "PTHSL2",
            "description": ""
        },
        {
            "id": "MONDO:0013690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013690",
            "name": "Pitt-Hopkins-like syndrome type 2",
            "description": ""
        },
        {
            "id": "MIM:614325",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614325",
            "name": "Pitt-Hopkins-like syndrome 2",
            "description": "Pitt-Hopkins-like syndrome 2"
        }
    ]
}
