{
    "disease_id": "DOID:0080735", 
    "synonyms": [], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080735", 
        "description": "An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080735", 
        "name": "Ehlers-Danlos syndrome kyphoscoliotic type 2"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080735#disease-associations", 
            "id": "0080735", 
            "database": "Alliance of Genome Resources"
        }
    ]
}