{
    "disease_id": "DOID:14778", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007201", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007201", 
            "name": "blepharophimosis, ptosis, and epicanthus inversus syndrome type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007201", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007201", 
            "name": "BPES"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007201", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007201", 
            "name": "blepharophimosis syndrome type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007201", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007201", 
            "name": "BPES type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007201", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007201", 
            "name": "blepharophimosis, ptosis, epicanthus inversus with ovarian failure"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007201", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007201", 
            "name": "BPES with premature ovarian failure"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007201", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007201", 
            "name": "blepharophimosis types 1 and 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007201", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007201", 
            "name": "BPES with ovarian failure"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007201", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007201", 
            "name": "blepharophimosis, ptosis, and epicanthus inversus"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007201", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007201", 
            "name": "blepharophimosis-epicanthus inversus-ptosis syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007201", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007201", 
            "name": "BPES without ovarian failure"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007201", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007201", 
            "name": "BPES, type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007201", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007201", 
            "name": "BPES, type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007201", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007201", 
            "name": "BPES with Duane retraction syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007201", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007201", 
            "name": "blepharophimosis, ptosis, epicanthus inversus syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007201", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007201", 
            "name": "BPES, type I, autosomal recessive"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007201", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007201", 
            "name": "blepharophimosis, ptosis, and epicanthus inversus; BPES"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:14778", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:14778", 
        "name": "blepharophimosis, ptosis, and epicanthus inversus syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/14778#disease-associations", 
            "id": "14778", 
            "database": "Alliance of Genome Resources"
        }
    ]
}