{
    "disease_id": "DOID:0070469",
    "recommended_name": {
        "id": "DOID:0070469",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070469",
        "name": "neurodevelopmental disorder with dysmorphic facies and thin corpus callosum",
        "description": "An autosomal dominant intellectual developmental disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, dysmorphic facial features, and corpus callosum abnormalities that has_material_basis_in heterozygous mutation in the SUPT16H gene on chromosome 14q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070469",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070469",
            "name": "NEDDFAC",
            "description": ""
        },
        {
            "id": "MONDO:0859179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859179",
            "name": "neurodevelopmental disorder with dysmorphic facies and thin corpus callosum",
            "description": ""
        },
        {
            "id": "MIM:619480",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619480",
            "name": "Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum",
            "description": "Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070469"
    ],
    "unlinked_id_list": []
}