{
    "disease_id": "DOID:0080737", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014236", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014236", 
            "name": "Ehlers-Danlos syndrome, musculocontractural type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014236", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014236", 
            "name": "EDSMC2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014236", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014236", 
            "name": "Ehlers-Danlos syndrome, musculocontractural type caused by mutation in DSE"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014236", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014236", 
            "name": "DSE Ehlers-Danlos syndrome, musculocontractural type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014236", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014236", 
            "name": "Ehlers-Danlos syndrome, musculocontractural type, 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014236", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014236", 
            "name": "Ehlers-Danlos syndrome, musculocontractural type, 2; EDSMC2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014236", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014236", 
            "name": "Ehlers-Danlos syndrome, musculocontractural type 2; EDSMC2"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080737", 
        "description": "An Ehlers-Danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the DSE gene on chromosome 6q22.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080737", 
        "name": "Ehlers-Danlos syndrome musculocontractural type 2"
    }, 
    "evidence": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014236", 
            "id": "0014236", 
            "database": "MONDO"
        }, 
        {
            "url": "https://www.omim.org/entry/615539", 
            "id": "615539", 
            "database": "MIM"
        }
    ]
}