{
    "disease_id": "DOID:0070346",
    "recommended_name": {
        "id": "DOID:0070346",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070346",
        "name": "neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies",
        "description": "A syndrome that is characterized by impaired intellectual development with absent language and short stature and that has_material_basis_in homozygous mutation in the INTS1 gene on chromosome 7p22."
    },
    "synonyms": [
        {
            "id": "MONDO:0032817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032817",
            "name": "neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies",
            "description": ""
        },
        {
            "id": "MONDO:0032817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032817",
            "name": "NDCAGF",
            "description": ""
        },
        {
            "id": "MIM:618571",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618571",
            "name": "Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies",
            "description": "Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070346"
    ],
    "unlinked_id_list": []
}