{
    "disease_id": "DOID:0111786",
    "recommended_name": {
        "id": "DOID:0111786",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111786",
        "name": "frontometaphyseal dysplasia 1",
        "description": "A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0111786",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111786",
            "name": "FMD1",
            "description": ""
        },
        {
            "id": "MONDO:0024550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024550",
            "name": "frontometaphyseal dysplasia 1",
            "description": "Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the FLNA gene."
        },
        {
            "id": "MONDO:0024550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024550",
            "name": "FMD1",
            "description": ""
        },
        {
            "id": "MONDO:0024550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024550",
            "name": "FLNA frontometaphyseal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0024550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024550",
            "name": "FRONTOMETAPHYSEAL dysplasia 1; FMD1",
            "description": ""
        },
        {
            "id": "MONDO:0024550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024550",
            "name": "frontometaphyseal dysplasia caused by mutation in FLNA",
            "description": ""
        },
        {
            "id": "MONDO:0024550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024550",
            "name": "Fmd",
            "description": ""
        },
        {
            "id": "MIM:305620",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/305620",
            "name": "Frontometaphyseal dysplasia 1",
            "description": "Frontometaphyseal dysplasia 1"
        }
    ]
}