{
    "disease_id": "DOID:0080735",
    "recommended_name": {
        "id": "DOID:0080735",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080735",
        "name": "Ehlers-Danlos syndrome kyphoscoliotic type 2",
        "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."
    },
    "synonyms": []
}