{
    "disease_id": "DOID:0080985",
    "recommended_name": {
        "id": "DOID:0080985",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080985",
        "name": "syndromic X-linked intellectual disorder Lujan-Fryns-type",
        "description": "A syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the MED12 gene on chromosome Xq13. Opitz-Kaveggia syndrome is an allelic disorder with an overlapping phenotype."
    },
    "synonyms": [
        {
            "id": "MONDO:0010655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010655",
            "name": "X-linked intellectual disability with marfanoid habitus",
            "description": "The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems."
        },
        {
            "id": "MONDO:0010655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010655",
            "name": "Lujan syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010655",
            "name": "Lujan-Fryns syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010655",
            "name": "Lujan-Fryns syndrome, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010655",
            "name": "LUJAN-Fryns syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010655",
            "name": "Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0010655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010655",
            "name": "intellectual disability, X-linked, with Marfanoid habitus",
            "description": ""
        },
        {
            "id": "MONDO:0010655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010655",
            "name": "mental retardation, X-linked, with Marfanoid habitus",
            "description": ""
        },
        {
            "id": "MIM:309520",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/309520",
            "name": "Intellectual developmental disorder, X-linked, syndromic, Lujan-Fryns type",
            "description": "Intellectual developmental disorder, X-linked, syndromic, Lujan-Fryns type"
        }
    ]
}