{
    "disease_id": "DOID:0060799",
    "recommended_name": {
        "id": "DOID:0060799",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060799",
        "name": "syndromic X-linked intellectual disability Lubs type",
        "description": "A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0060799",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060799",
            "name": "mental retardation, X-linked, with recurrent respiratory infections",
            "description": ""
        },
        {
            "id": "DOID:0060799",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060799",
            "name": "Lubs X-linked mental retardation syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060799",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060799",
            "name": "MECP2 duplication syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060799",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060799",
            "name": "MRXSL",
            "description": ""
        },
        {
            "id": "DOID:0060799",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060799",
            "name": "mental retardation, X-linked, syndromic, Lubs type",
            "description": ""
        },
        {
            "id": "DOID:0060799",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060799",
            "name": "X-linked intellectual disability-hypotonia-recurrent Infections syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010283",
            "name": "syndromic X-linked intellectual disability Lubs type",
            "description": "Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown."
        },
        {
            "id": "MONDO:0010283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010283",
            "name": "MECP2 Duplication syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010283",
            "name": "Lubs X-linked mental retardation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010283",
            "name": "MECP2 duplication syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010283",
            "name": "Lubs X-linked mental retardation syndrome (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0010283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010283",
            "name": "MRXSL",
            "description": ""
        },
        {
            "id": "MONDO:0010283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010283",
            "name": "mental retardation, X-linked, with recurrent respiratory infections",
            "description": ""
        },
        {
            "id": "MONDO:0010283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010283",
            "name": "X-linked intellectual disability-hypotonia-recurrent infections syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010283",
            "name": "Lubs X-linked mental retardation syndrome; MRXSL",
            "description": ""
        },
        {
            "id": "MONDO:0010283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010283",
            "name": "mental retardation, X-linked, Lubs type (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0010283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010283",
            "name": "mental retardation, X-linked, syndromic, Lubs type",
            "description": ""
        },
        {
            "id": "MONDO:0010283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010283",
            "name": "XLMR syndrome, Lubs type",
            "description": ""
        },
        {
            "id": "MONDO:0010283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010283",
            "name": "telomeric duplication Xq",
            "description": ""
        },
        {
            "id": "MONDO:0010283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010283",
            "name": "distal duplication Xq",
            "description": ""
        },
        {
            "id": "MONDO:0010283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010283",
            "name": "trisomy Xq28",
            "description": ""
        },
        {
            "id": "MIM:300260",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300260",
            "name": "Intellectual developmental disorder, X-linked, syndromic, Lubs type",
            "description": "Intellectual developmental disorder, X-linked, syndromic, Lubs type"
        }
    ]
}