{
    "disease_id": "DOID:0061156",
    "recommended_name": {
        "id": "DOID:0061156",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061156",
        "name": "CASGID syndrome",
        "description": "A syndrome characterized by an elevated glutamate to glutamine ratio and impaired intellectual development with the variable features of infantile cataract, skin abnormalities, seizures, and progressive spastic quadriplegia that has_material_basis_in heterozygous mutation in the GLS gene, which encodes glutaminase, on chromosome 2q32."
    },
    "synonyms": [
        {
            "id": "DOID:0061156",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061156",
            "name": "Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development",
            "description": ""
        },
        {
            "id": "MONDO:0032685",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032685",
            "name": "infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development",
            "description": ""
        },
        {
            "id": "MONDO:0032685",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032685",
            "name": "infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development",
            "description": ""
        },
        {
            "id": "MONDO:0032685",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032685",
            "name": "CASGID",
            "description": ""
        },
        {
            "id": "MONDO:0032685",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032685",
            "name": "INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT",
            "description": ""
        },
        {
            "id": "MIM:618339",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618339",
            "name": "CASGID syndrome",
            "description": "CASGID syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061156"
    ],
    "unlinked_id_list": []
}