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