{
    "disease_id": "DOID:0060821", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010398", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010398", 
            "name": "mental retardation, X-linked, syndromic 14; MRXS14"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010398", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010398", 
            "name": "mental retardation, X-linked, syndromic type 14"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010398", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010398", 
            "name": "MRXS14"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010398", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010398", 
            "name": "mental retardation, X-linked, syndromic 14"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010398", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010398", 
            "name": "syndromic X-linked intellectual disability type 14"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010398", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010398", 
            "name": "UPF3B X-linked syndromic intellectual disability"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010398", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010398", 
            "name": "X-linked syndromic intellectual disability caused by mutation in UPF3B"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060821", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060821", 
            "name": "mental retardation, X-linked, syndromic 14"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060821", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060821", 
        "name": "syndromic X-linked intellectual disability 14"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060821#disease-associations", 
            "id": "0060821", 
            "database": "Alliance of Genome Resources"
        }
    ]
}