{
    "disease_id": "DOID:0111865", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010498", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010498", 
            "name": "MEND syndrome; MEND"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010498", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010498", 
            "name": "Male EBP disorder with neurological defects"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010498", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010498", 
            "name": "Male EBP disorder with neurologic defects"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010498", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010498", 
            "name": "MEND"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111865", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111865", 
            "name": "male EBP disorder with neurological defects"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111865", 
        "description": "A lipid metabolism disorder characterized by a defect in sterol biosynthesis that results in variable features including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities that has_material_basis_in hemizygous mutation in EBP on chromosome Xp11.23.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111865", 
        "name": "MEND syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111865#disease-associations", 
            "id": "0111865", 
            "database": "Alliance of Genome Resources"
        }
    ]
}
