{
    "disease_id": "DOID:0081301",
    "recommended_name": {
        "id": "DOID:0081301",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0081301",
        "name": "intellectual developmental disorder with ocular anomalies and distinctive facial features",
        "description": "A syndromic intellectual disability that is characterized by global developmental delay, mildly impaired intellectual development, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features, and that has_material_basis_in heterozygous mutation in the MTSS2 gene on chromosome 16q22."
    },
    "synonyms": [
        {
            "id": "DOID:0081301",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0081301",
            "name": "MTSS2-related neurodevelopmental disorder",
            "description": ""
        },
        {
            "id": "DOID:0081301",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0081301",
            "name": "IDDOF",
            "description": ""
        },
        {
            "id": "MONDO:0859303",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859303",
            "name": "intellectual developmental disorder with ocular anomalies and distinctive facial features",
            "description": ""
        },
        {
            "id": "MIM:620086",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620086",
            "name": "Intellectual developmental disorder with ocular anomalies and distinctive facial features",
            "description": "Intellectual developmental disorder with ocular anomalies and distinctive facial features"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081301"
    ],
    "unlinked_id_list": []
}