{
    "disease_id": "DOID:0080737",
    "recommended_name": {
        "id": "DOID:0080737",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080737",
        "name": "Ehlers-Danlos syndrome musculocontractural type 2",
        "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0014236",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014236",
            "name": "Ehlers-Danlos syndrome, musculocontractural type 2",
            "description": "Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene."
        },
        {
            "id": "MONDO:0014236",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014236",
            "name": "EDSMC2",
            "description": ""
        },
        {
            "id": "MONDO:0014236",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014236",
            "name": "Ehlers-Danlos syndrome, musculocontractural type caused by mutation in DSE",
            "description": ""
        },
        {
            "id": "MONDO:0014236",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014236",
            "name": "DSE Ehlers-Danlos syndrome, musculocontractural type",
            "description": ""
        },
        {
            "id": "MONDO:0014236",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014236",
            "name": "Ehlers-Danlos syndrome, musculocontractural type, 2",
            "description": ""
        },
        {
            "id": "MONDO:0014236",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014236",
            "name": "Ehlers-Danlos syndrome, musculocontractural type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014236",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014236",
            "name": "Ehlers-Danlos syndrome, musculocontractural type, 2; EDSMC2",
            "description": ""
        },
        {
            "id": "MONDO:0014236",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014236",
            "name": "Ehlers-Danlos syndrome, musculocontractural type 2; EDSMC2",
            "description": ""
        },
        {
            "id": "MIM:615539",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615539",
            "name": "Ehlers-Danlos syndrome, musculocontractural type 2",
            "description": "Ehlers-Danlos syndrome, musculocontractural type 2"
        }
    ]
}