{
    "disease_id": "DOID:0111865",
    "recommended_name": {
        "id": "DOID:0111865",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111865",
        "name": "MEND syndrome",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0111865",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111865",
            "name": "male EBP disorder with neurological defects",
            "description": ""
        },
        {
            "id": "MONDO:0010498",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010498",
            "name": "MEND syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010498",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010498",
            "name": "MEND syndrome; MEND",
            "description": ""
        },
        {
            "id": "MONDO:0010498",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010498",
            "name": "Male EBP disorder with neurological defects",
            "description": ""
        },
        {
            "id": "MONDO:0010498",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010498",
            "name": "MEND syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010498",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010498",
            "name": "Male EBP disorder with neurologic defects",
            "description": ""
        },
        {
            "id": "MONDO:0010498",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010498",
            "name": "MEND",
            "description": ""
        },
        {
            "id": "MIM:300960",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300960",
            "name": "MEND syndrome",
            "description": "MEND syndrome"
        }
    ]
}