{
    "disease_id": "DOID:0112161",
    "recommended_name": {
        "id": "DOID:0112161",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112161",
        "name": "Noonan syndrome 13",
        "description": "A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in the MAPK1 gene on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase."
    },
    "synonyms": [
        {
            "id": "DOID:0112161",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112161",
            "name": "NS13",
            "description": ""
        },
        {
            "id": "MONDO:0033669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033669",
            "name": "Noonan syndrome 13",
            "description": ""
        },
        {
            "id": "MONDO:0033669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033669",
            "name": "NS13",
            "description": ""
        },
        {
            "id": "MIM:619087",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619087",
            "name": "Noonan syndrome 13",
            "description": "Noonan syndrome 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112161"
    ],
    "unlinked_id_list": []
}