{
    "disease_id": "DOID:14720",
    "recommended_name": {
        "id": "DOID:14720",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:14720",
        "name": "Ehlers-Danlos syndrome classic type 1",
        "description": "An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "DOID:14720",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14720",
            "name": "type I Ehlers-Danlos syndrome",
            "description": ""
        },
        {
            "id": "DOID:14720",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14720",
            "name": "Ehlers-Danlos syndrome, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007522",
            "name": "Ehlers-Danlos syndrome, classic type",
            "description": "Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility."
        },
        {
            "id": "MONDO:0007522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007522",
            "name": "EDSCL1",
            "description": ""
        },
        {
            "id": "MONDO:0007522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007522",
            "name": "Ehlers-Danlos syndrome classical type",
            "description": ""
        },
        {
            "id": "MONDO:0007522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007522",
            "name": "Ehlers-Danlos syndrome, classic type",
            "description": ""
        },
        {
            "id": "MONDO:0007522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007522",
            "name": "Ehlers-Danlos syndrome classic type",
            "description": ""
        },
        {
            "id": "MONDO:0007522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007522",
            "name": "Ehlers Danlos syndrome, mild classic type, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0007522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007522",
            "name": "Ehlers-Danlos syndrome, type II, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0007522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007522",
            "name": "Ehlers Danlos syndrome, mild classic type",
            "description": ""
        },
        {
            "id": "MONDO:0007522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007522",
            "name": "EDS, classic type",
            "description": ""
        },
        {
            "id": "MONDO:0007522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007522",
            "name": "Ehlers-Danlos syndrome type 1 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0007522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007522",
            "name": "Ehlers-Danlos syndrome, severe classic type, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0007522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007522",
            "name": "Ehlers-Danlos syndrome, type II",
            "description": ""
        },
        {
            "id": "MONDO:0007522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007522",
            "name": "Ehlers-Danlos syndrome, classic type, 1",
            "description": ""
        },
        {
            "id": "MONDO:0007522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007522",
            "name": "classical Ehlers-Danlos syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007522",
            "name": "Ehlers-Danlos syndrome type 2 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0007522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007522",
            "name": "EDS I, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0007522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007522",
            "name": "Ehlers-Danlos syndrome, severe classic type",
            "description": ""
        },
        {
            "id": "MONDO:0007522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007522",
            "name": "EDS II, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0007522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007522",
            "name": "Ehlers Danlos syndrome, mitis type, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0007522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007522",
            "name": "EDS I",
            "description": ""
        },
        {
            "id": "MONDO:0007522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007522",
            "name": "Ehlers-Danlos syndrome, gravis type, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0007522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007522",
            "name": "EDS II",
            "description": ""
        },
        {
            "id": "MONDO:0007522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007522",
            "name": "Ehlers Danlos syndrome, mitis type",
            "description": ""
        },
        {
            "id": "MONDO:0007522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007522",
            "name": "Ehlers-Danlos syndrome, type I, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0007522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007522",
            "name": "Ehlers-Danlos syndrome, gravis type",
            "description": ""
        },
        {
            "id": "MONDO:0007522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007522",
            "name": "Ehlers-Danlos syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0007522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007522",
            "name": "classic Ehlers-Danlos syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007522",
            "name": "Ehlers-Danlos syndrome, type I",
            "description": ""
        },
        {
            "id": "MONDO:0007522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007522",
            "name": "Ehlers-Danlos syndrome, classic type, 1; EDSCL1",
            "description": ""
        },
        {
            "id": "MIM:130000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/130000",
            "name": "Ehlers-Danlos syndrome, classic type, 1",
            "description": "Ehlers-Danlos syndrome, classic type, 1"
        }
    ]
}