{
    "disease_id": "DOID:0050681",
    "recommended_name": {
        "id": "DOID:0050681",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050681",
        "name": "Borjeson-Forssman-Lehmann syndrome",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0050681",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050681",
            "name": "mental retardation, epilepsy, and endocrine disorder",
            "description": ""
        },
        {
            "id": "DOID:0050681",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050681",
            "name": "intellectual deficiency-epilepsy-endocrine disorders syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050681",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050681",
            "name": "syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type",
            "description": ""
        },
        {
            "id": "DOID:0050681",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050681",
            "name": "BFLS",
            "description": ""
        },
        {
            "id": "DOID:0050681",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050681",
            "name": "BORJ",
            "description": ""
        },
        {
            "id": "DOID:0050681",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050681",
            "name": "Borjeson syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050681",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050681",
            "name": "MRXSBFL",
            "description": ""
        },
        {
            "id": "MONDO:0010537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010537",
            "name": "Borjeson-Forssman-Lehmann syndrome",
            "description": "A X-linked yndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes."
        },
        {
            "id": "MONDO:0010537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010537",
            "name": "BFLS",
            "description": ""
        },
        {
            "id": "MONDO:0010537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010537",
            "name": "BORJ",
            "description": ""
        },
        {
            "id": "MONDO:0010537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010537",
            "name": "Borjeson syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010537",
            "name": "Borjeson-Forssman-Lehmann syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010537",
            "name": "Borjeson-Forssman-Lehmann syndrome, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010537",
            "name": "Brjeson-Forssman-Lehman Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010537",
            "name": "MRXSBFL",
            "description": ""
        },
        {
            "id": "MONDO:0010537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010537",
            "name": "intellectual disability, epilepsy, and endocrine disorder",
            "description": ""
        },
        {
            "id": "MONDO:0010537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010537",
            "name": "intellectual disability-epilepsy-endocrine disorders syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010537",
            "name": "syndromic X-linked intellectual disability Borjeson-Forssman-Lehmann type",
            "description": ""
        },
        {
            "id": "MONDO:0010537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010537",
            "name": "mental deficiency, epilepsy and endocrine disorders",
            "description": ""
        },
        {
            "id": "MONDO:0010537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010537",
            "name": "mental retardation, X-linked, syndromic, Borjeson-Forssman-Lehmann type",
            "description": ""
        },
        {
            "id": "MONDO:0010537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010537",
            "name": "mental retardation, epilepsy, and endocrine disorders",
            "description": ""
        },
        {
            "id": "MIM:301900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301900",
            "name": "Boerjeson-Forssman-Lehmann syndrome",
            "description": "Boerjeson-Forssman-Lehmann syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050681"
    ],
    "unlinked_id_list": []
}