{
    "disease_id": "DOID:0060804",
    "recommended_name": {
        "id": "DOID:0060804",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060804",
        "name": "syndromic X-linked intellectual disability 12",
        "description": "A syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has_material_basis_in variation in the chromosome region Xp11."
    },
    "synonyms": [
        {
            "id": "DOID:0060804",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060804",
            "name": "X-linked intellectual disability, Wilson type",
            "description": ""
        },
        {
            "id": "DOID:0060804",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060804",
            "name": "mental retardation, X-linked, syndromic 12",
            "description": ""
        },
        {
            "id": "MONDO:0010658",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010658",
            "name": "syndromic X-linked intellectual disability 12",
            "description": "X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome."
        },
        {
            "id": "MONDO:0010658",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010658",
            "name": "X-linked intellectual disability, Wilson type",
            "description": ""
        },
        {
            "id": "MONDO:0010658",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010658",
            "name": "MRXS12",
            "description": ""
        },
        {
            "id": "MONDO:0010658",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010658",
            "name": "mental retardation, X-linked, syndromic 12; MRXS12",
            "description": ""
        },
        {
            "id": "MONDO:0010658",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010658",
            "name": "syndromic X-linked intellectual disability type 12",
            "description": ""
        },
        {
            "id": "MONDO:0010658",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010658",
            "name": "mental retardation, X-linked, syndromic 12",
            "description": ""
        }
    ]
}