{
    "disease_id": "DOID:0080730",
    "recommended_name": {
        "id": "DOID:0080730",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080730",
        "name": "Ehlers-Danlos syndrome cardiac valvular type",
        "description": "An Ehlers-Danlos syndrome that is characterized by severe problems with heart valves and that has_material_basis_in homozygous or compound heterozygous mutation in the COL1A2 gene on chromosome 7q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0009159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009159",
            "name": "Ehlers-Danlos syndrome, cardiac valvular type",
            "description": "A form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency."
        },
        {
            "id": "MONDO:0009159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009159",
            "name": "COL1A2-related Ehlers-Danlos syndrome, cardiac valvular type",
            "description": ""
        },
        {
            "id": "MONDO:0009159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009159",
            "name": "EDS, cardiac valvular type",
            "description": ""
        },
        {
            "id": "MONDO:0009159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009159",
            "name": "EDSCV",
            "description": ""
        },
        {
            "id": "MONDO:0009159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009159",
            "name": "Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form",
            "description": ""
        },
        {
            "id": "MONDO:0009159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009159",
            "name": "cardiac valvular form of Ehlers-Danlos syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009159",
            "name": "cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009159",
            "name": "cardiac-valvular EDS",
            "description": ""
        },
        {
            "id": "MONDO:0009159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009159",
            "name": "cardiac-valvular Ehlers-Danlos syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009159",
            "name": "cvEDS",
            "description": ""
        },
        {
            "id": "MONDO:0009159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009159",
            "name": "Ehlers-Danlos syndrome, arthrochalasis type",
            "description": ""
        },
        {
            "id": "MIM:225320",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/225320",
            "name": "Ehlers-Danlos syndrome, cardiac valvular type",
            "description": "Ehlers-Danlos syndrome, cardiac valvular type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080730"
    ],
    "unlinked_id_list": []
}