{
    "disease_id": "DOID:0081123",
    "recommended_name": {
        "id": "DOID:0081123",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081123",
        "name": "X-linked mental retardation Gustavson type",
        "description": "A syndromic X-linked intellectual disability that is characterized by intrauterine growth retardation, microcephaly, hypotonia, and severe global developmental delay, usually resulting in death in infancy or early childhood that has_material_basis_in hemizygous mutation in the RBMX gene on chromosome Xq26."
    },
    "synonyms": [
        {
            "id": "DOID:0081123",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081123",
            "name": "mental retardation with optic atrophy, deafness and seizures",
            "description": ""
        },
        {
            "id": "DOID:0081123",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081123",
            "name": "Gustavson type of X-linked syndromic intellectual developmental disorder",
            "description": ""
        },
        {
            "id": "MONDO:0010661",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010661",
            "name": "severe X-linked intellectual disability, Gustavson type",
            "description": "Severe X-linked intellectual disability, Gustavson type is characterized by X-linked intellectual disability, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood."
        },
        {
            "id": "MONDO:0010661",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010661",
            "name": "X-linked intellectual disability Gustavson type",
            "description": ""
        },
        {
            "id": "MONDO:0010661",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010661",
            "name": "X-linked mental retardation Gustavson type",
            "description": ""
        },
        {
            "id": "MONDO:0010661",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010661",
            "name": "gust",
            "description": ""
        },
        {
            "id": "MONDO:0010661",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010661",
            "name": "intellectual disability X-linked severe Gustavson type",
            "description": ""
        },
        {
            "id": "MONDO:0010661",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010661",
            "name": "mental retardation X-linked severe Gustavson type",
            "description": ""
        },
        {
            "id": "MONDO:0010661",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010661",
            "name": "mental retardation with optic atrophy, deafness, and seizures",
            "description": ""
        },
        {
            "id": "MIM:309555",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/309555",
            "name": "Intellectual developmental disorder, X-linked, syndromic, Gustavson type",
            "description": "Intellectual developmental disorder, X-linked, syndromic, Gustavson type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081123"
    ],
    "unlinked_id_list": []
}