{
    "disease_id": "DOID:0050681", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010537", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010537", 
            "name": "intellectual disability-epilepsy-endocrine disorders syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010537", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010537", 
            "name": "intellectual deficiency-epilepsy-endocrine disorders syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010537", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010537", 
            "name": "MRXSBFL"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010537", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010537", 
            "name": "mental deficiency, epilepsy and endocrine disorders"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010537", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010537", 
            "name": "mental retardation, X-linked, syndromic, Borjeson-Forssman-Lehmann type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010537", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010537", 
            "name": "BORJ"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010537", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010537", 
            "name": "mental retardation, epilepsy, and endocrine disorders"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010537", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010537", 
            "name": "BFLS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010537", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010537", 
            "name": "mental retardation, epilepsy, and endocrine disorder"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010537", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010537", 
            "name": "Borjeson-FORSSMAN-Lehmann syndrome; BFLS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010537", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010537", 
            "name": "Borjeson syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010537", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010537", 
            "name": "syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0050681", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0050681", 
            "name": "mental retardation, epilepsy, and endocrine disorder"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0050681", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0050681", 
            "name": "intellectual deficiency-epilepsy-endocrine disorders syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0050681", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0050681", 
            "name": "syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0050681", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0050681", 
            "name": "BFLS"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0050681", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0050681", 
            "name": "BORJ"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0050681", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0050681", 
            "name": "Borjeson syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0050681", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0050681", 
            "name": "MRXSBFL"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0050681", 
        "description": "An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0050681", 
        "name": "Borjeson-Forssman-Lehmann syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0050681#disease-associations", 
            "id": "0050681", 
            "database": "Alliance of Genome Resources"
        }
    ]
}