{
    "disease_id": "DOID:0080739",
    "recommended_name": {
        "id": "DOID:0080739",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080739",
        "name": "Ehlers-Danlos syndrome spondylodysplastic type 3",
        "description": "An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features."
    },
    "synonyms": [
        {
            "id": "MONDO:0012873",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012873",
            "name": "Ehlers-Danlos syndrome, spondylocheirodysplastic type",
            "description": "Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers."
        },
        {
            "id": "MONDO:0012873",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012873",
            "name": "EDS, spondylocheirodysplastic type",
            "description": ""
        },
        {
            "id": "MONDO:0012873",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012873",
            "name": "EDSSPD3",
            "description": ""
        },
        {
            "id": "MIM:612350",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612350",
            "name": "Ehlers-Danlos syndrome, spondylodysplastic type, 3",
            "description": "Ehlers-Danlos syndrome, spondylodysplastic type, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080739"
    ],
    "unlinked_id_list": []
}