{
    "disease_id": "DOID:0070600",
    "recommended_name": {
        "id": "DOID:0070600",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070600",
        "name": "intellectual disability and myopathy syndrome",
        "description": "A syndrome characterized by global developmental delay with mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and abnormalities in brain white matter that has_material_basis in homozygous or compound heterozygous mutation in the ABCC9 gene on chromosome 12p12."
    },
    "synonyms": [
        {
            "id": "DOID:0070600",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070600",
            "name": "ABCC9-related intellectual disability and myopathy",
            "description": ""
        },
        {
            "id": "DOID:0070600",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070600",
            "name": "AIMS",
            "description": ""
        },
        {
            "id": "DOID:0070600",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070600",
            "name": "IDMYS",
            "description": ""
        },
        {
            "id": "MONDO:0859224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859224",
            "name": "intellectual disability and myopathy syndrome",
            "description": ""
        },
        {
            "id": "MIM:619719",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619719",
            "name": "Intellectual disability and myopathy syndrome",
            "description": "Intellectual disability and myopathy syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070600"
    ],
    "unlinked_id_list": []
}