{
    "disease_id": "DOID:0080727",
    "recommended_name": {
        "id": "DOID:0080727",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080727",
        "name": "Ehlers-Danlos syndrome arthrochalasia type 1",
        "description": "An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0007525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007525",
            "name": "Ehlers-Danlos syndrome, arthrochalasis type",
            "description": "Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen . Common symptoms include severe joint hypermobility ; congenital hip dislocation ; fragile, hyperextensible skin ; hypotonia ; and kyphoscoliosis ( kyphosis and scoliosis ).EDS, arthrochalasia type is caused by changes ( mutations ) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms."
        },
        {
            "id": "MONDO:0007525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007525",
            "name": "Ehlers-Danlos syndrome type 7",
            "description": ""
        },
        {
            "id": "MONDO:0007525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007525",
            "name": "arthrochalasia Ehlers-Danlos syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007525",
            "name": "Ehlers-Danlos syndrome, type VII, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007525",
            "name": "Ehlers-Danlos syndrome type 7A (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0007525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007525",
            "name": "AEDS",
            "description": ""
        },
        {
            "id": "MONDO:0007525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007525",
            "name": "EDS VII",
            "description": ""
        },
        {
            "id": "MONDO:0007525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007525",
            "name": "EDS VII, mutant procollagen type",
            "description": ""
        },
        {
            "id": "MONDO:0007525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007525",
            "name": "EDSARTH1",
            "description": ""
        },
        {
            "id": "MONDO:0007525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007525",
            "name": "arthrochalasia EDS",
            "description": ""
        },
        {
            "id": "MONDO:0007525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007525",
            "name": "arthrochalasis multiplex congenita",
            "description": ""
        },
        {
            "id": "MONDO:0007525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007525",
            "name": "Ehlers-Danlos syndrome, arthrochalasia type",
            "description": ""
        },
        {
            "id": "MONDO:0007525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007525",
            "name": "Ehlers-Danlos syndrome, arthrochalasia type, 1",
            "description": ""
        },
        {
            "id": "MONDO:0007525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007525",
            "name": "Ehlers-Danlos syndrome, type VIIA, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007525",
            "name": "Ehlers-Danlos syndrome, arthrochalasia type, 1; EDSARTH1",
            "description": ""
        },
        {
            "id": "MONDO:0007525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007525",
            "name": "Ehlers-Danlos syndrome, type VII",
            "description": ""
        },
        {
            "id": "MONDO:0007525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007525",
            "name": "EDS 7B",
            "description": ""
        },
        {
            "id": "MONDO:0007525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007525",
            "name": "EDS 7A",
            "description": ""
        },
        {
            "id": "MONDO:0007525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007525",
            "name": "EDS7A (formerly)",
            "description": ""
        },
        {
            "id": "MIM:130060",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/130060",
            "name": "Ehlers-Danlos syndrome, arthrochalasia type, 1",
            "description": "Ehlers-Danlos syndrome, arthrochalasia type, 1"
        }
    ]
}