{
    "disease_id": "DOID:14778",
    "recommended_name": {
        "id": "DOID:14778",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:14778",
        "name": "blepharophimosis, ptosis, and epicanthus inversus syndrome",
        "description": "A syndrome characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus with (type I) or without (premature ovarian failure) that has_material_basis_in heterozygous or rarely homozygous mutation in FOXL2 on chromosome 3q22.3."
    },
    "synonyms": [
        {
            "id": "MONDO:0007201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007201",
            "name": "blepharophimosis, ptosis, and epicanthus inversus syndrome",
            "description": "Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF; see this term) (type II)."
        },
        {
            "id": "MONDO:0007201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007201",
            "name": "blepharophimosis, ptosis, and epicanthus inversus syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007201",
            "name": "BPES",
            "description": ""
        },
        {
            "id": "MONDO:0007201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007201",
            "name": "blepharophimosis syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007201",
            "name": "BPES type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007201",
            "name": "blepharophimosis, ptosis, epicanthus inversus with ovarian failure",
            "description": ""
        },
        {
            "id": "MONDO:0007201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007201",
            "name": "BPES with premature ovarian failure",
            "description": ""
        },
        {
            "id": "MONDO:0007201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007201",
            "name": "blepharophimosis types 1 and 2",
            "description": ""
        },
        {
            "id": "MONDO:0007201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007201",
            "name": "BPES with ovarian failure",
            "description": ""
        },
        {
            "id": "MONDO:0007201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007201",
            "name": "blepharophimosis, ptosis, and epicanthus inversus",
            "description": ""
        },
        {
            "id": "MONDO:0007201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007201",
            "name": "blepharophimosis-epicanthus inversus-ptosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007201",
            "name": "BPES without ovarian failure",
            "description": ""
        },
        {
            "id": "MONDO:0007201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007201",
            "name": "BPES, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0007201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007201",
            "name": "BPES, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007201",
            "name": "BPES with Duane retraction syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007201",
            "name": "blepharophimosis, ptosis, epicanthus inversus syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007201",
            "name": "BPES, type I, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0007201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007201",
            "name": "blepharophimosis, ptosis, and epicanthus inversus; BPES",
            "description": ""
        },
        {
            "id": "MIM:110100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/110100",
            "name": "Blepharophimosis, ptosis, and epicanthus inversus syndrome",
            "description": "Blepharophimosis, ptosis, and epicanthus inversus syndrome"
        }
    ]
}