{
    "disease_id": "DOID:0060821",
    "recommended_name": {
        "id": "DOID:0060821",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060821",
        "name": "syndromic X-linked intellectual disability 14",
        "description": "A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24."
    },
    "synonyms": [
        {
            "id": "DOID:0060821",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060821",
            "name": "mental retardation, X-linked, syndromic 14",
            "description": ""
        },
        {
            "id": "MONDO:0010398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010398",
            "name": "syndromic X-linked intellectual disability 14",
            "description": "Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene."
        },
        {
            "id": "MONDO:0010398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010398",
            "name": "UPF3B X-linked syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010398",
            "name": "X-linked syndromic intellectual disability caused by mutation in UPF3B",
            "description": ""
        },
        {
            "id": "MONDO:0010398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010398",
            "name": "intellectual developmental disorder, X-linked syndromic 14, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010398",
            "name": "intellectual disability, X-linked, syndromic 14",
            "description": ""
        },
        {
            "id": "MONDO:0010398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010398",
            "name": "intellectual disability, X-linked, syndromic type 14",
            "description": ""
        },
        {
            "id": "MONDO:0010398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010398",
            "name": "mental retardation, X-linked, syndromic 14",
            "description": ""
        },
        {
            "id": "MONDO:0010398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010398",
            "name": "mental retardation, X-linked, syndromic type 14",
            "description": ""
        },
        {
            "id": "MONDO:0010398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010398",
            "name": "syndromic X-linked intellectual disability 14",
            "description": ""
        },
        {
            "id": "MONDO:0010398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010398",
            "name": "syndromic X-linked intellectual disability type 14",
            "description": ""
        },
        {
            "id": "MONDO:0010398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010398",
            "name": "MRXS14",
            "description": ""
        },
        {
            "id": "MIM:300676",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300676",
            "name": "Intellectual developmental disorder, X-linked, syndromic 14",
            "description": "Intellectual developmental disorder, X-linked, syndromic 14"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060821"
    ],
    "unlinked_id_list": []
}