{
    "disease_id": "DOID:0111726",
    "recommended_name": {
        "id": "DOID:0111726",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111726",
        "name": "geleophysic dysplasia 2",
        "description": "A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of FBN1 on chromosome 15q21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111726",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111726",
            "name": "GPHYSD2",
            "description": ""
        },
        {
            "id": "MONDO:0013612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013612",
            "name": "Geleophysic dysplasia 2",
            "description": "Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene."
        },
        {
            "id": "MONDO:0013612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013612",
            "name": "FBN1 geleophysic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0013612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013612",
            "name": "GPHYSD2",
            "description": ""
        },
        {
            "id": "MONDO:0013612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013612",
            "name": "geleophysic dysplasia caused by mutation in FBN1",
            "description": ""
        },
        {
            "id": "MONDO:0013612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013612",
            "name": "Geleophysic dysplasia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013612",
            "name": "Geleophysic dysplasia 2",
            "description": ""
        },
        {
            "id": "MONDO:0013612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013612",
            "name": "GELEOPHYSIC dysplasia 2; GPHYSD2",
            "description": ""
        },
        {
            "id": "MIM:614185",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614185",
            "name": "Geleophysic dysplasia 2",
            "description": "Geleophysic dysplasia 2"
        }
    ]
}