{
    "disease_id": "DOID:0050802",
    "recommended_name": {
        "id": "DOID:0050802",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050802",
        "name": "Ehlers-Danlos syndrome spondylodysplastic type 2",
        "description": "An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0050802",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050802",
            "name": "Ehlers-Danlos syndrome progeroid type",
            "description": ""
        },
        {
            "id": "DOID:0050802",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050802",
            "name": "EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2",
            "description": ""
        },
        {
            "id": "MONDO:0014139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014139",
            "name": "Ehlers-Danlos syndrome, spondylodysplastic type, 2",
            "description": "Any Ehlers-Danlos syndrome, spondylodysplastic type in which the cause of the disease is a mutation in the B3GALT6 gene."
        },
        {
            "id": "MONDO:0014139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014139",
            "name": "B3GALT6 Ehlers-Danlos syndrome progeroid type",
            "description": ""
        },
        {
            "id": "MONDO:0014139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014139",
            "name": "B3GALT6-related spEDS",
            "description": ""
        },
        {
            "id": "MONDO:0014139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014139",
            "name": "B3GALT6-related spondylodysplastic EDS",
            "description": ""
        },
        {
            "id": "MONDO:0014139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014139",
            "name": "Beta3GalT6-deficient EDS",
            "description": ""
        },
        {
            "id": "MONDO:0014139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014139",
            "name": "EDSP2",
            "description": ""
        },
        {
            "id": "MONDO:0014139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014139",
            "name": "EDSSPD2",
            "description": ""
        },
        {
            "id": "MONDO:0014139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014139",
            "name": "Ehlers-Danlos syndrome progeroid type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014139",
            "name": "Ehlers-Danlos syndrome progeroid type caused by mutation in B3GALT6",
            "description": ""
        },
        {
            "id": "MONDO:0014139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014139",
            "name": "Ehlers-Danlos syndrome, progeroid type, 2",
            "description": ""
        },
        {
            "id": "MONDO:0014139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014139",
            "name": "Ehlers-Danlos syndrome, spondylodysplastic type, 2",
            "description": ""
        },
        {
            "id": "MONDO:0014139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014139",
            "name": "spEDS-B3GALT6",
            "description": ""
        },
        {
            "id": "MONDO:0014139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014139",
            "name": "Ehlers-Danlos syndrome, progeroid type, 2, formerly",
            "description": ""
        },
        {
            "id": "MIM:615349",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615349",
            "name": "Ehlers-Danlos syndrome, spondylodysplastic type, 2",
            "description": "Ehlers-Danlos syndrome, spondylodysplastic type, 2"
        }
    ]
}