{
    "disease_id": "DOID:0070513",
    "recommended_name": {
        "id": "DOID:0070513",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070513",
        "name": "neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SRSF1 gene on chromosome 17q22."
    },
    "synonyms": [
        {
            "id": "DOID:0070513",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070513",
            "name": "NEDFBA",
            "description": ""
        },
        {
            "id": "MONDO:0957583",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957583",
            "name": "neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities",
            "description": ""
        },
        {
            "id": "MIM:620489",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620489",
            "name": "Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities",
            "description": "Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070513"
    ],
    "unlinked_id_list": []
}