{
    "disease_id": "DOID:0080738",
    "recommended_name": {
        "id": "DOID:0080738",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080738",
        "name": "Ehlers-Danlos syndrome spondylodysplastic type 1",
        "description": "An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35."
    },
    "synonyms": [
        {
            "id": "MONDO:0020682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020682",
            "name": "Ehlers-Danlos syndrome, spondylodysplastic type, 1",
            "description": ""
        },
        {
            "id": "MONDO:0020682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020682",
            "name": "EDSSPD1",
            "description": ""
        },
        {
            "id": "MONDO:0020682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020682",
            "name": "Ehlers-Danlos syndrome with Short stature and Limb anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0020682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020682",
            "name": "Ehlers-Danlos syndrome, progeroid type 1",
            "description": ""
        },
        {
            "id": "MONDO:0020682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020682",
            "name": "Ehlers-Danlos syndrome, progeroid type, 1",
            "description": ""
        },
        {
            "id": "MONDO:0020682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020682",
            "name": "Ehlers-Danlos syndrome, spondylodysplastic type, 1",
            "description": ""
        },
        {
            "id": "MONDO:0020682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020682",
            "name": "PDS, defective biosynthesis of",
            "description": ""
        },
        {
            "id": "MONDO:0020682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020682",
            "name": "XGPT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0020682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020682",
            "name": "dermatan sulfate proteoglycan",
            "description": ""
        },
        {
            "id": "MONDO:0020682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020682",
            "name": "dermatan sulphate proteoglycan",
            "description": ""
        },
        {
            "id": "MONDO:0020682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020682",
            "name": "galactosyltransferase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0020682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020682",
            "name": "proteodermatan sulfate, defective biosynthesis of",
            "description": ""
        },
        {
            "id": "MONDO:0020682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020682",
            "name": "xylosylprotein 4-Beta-galactosyltransferase deficiency",
            "description": ""
        },
        {
            "id": "MIM:130070",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/130070",
            "name": "Ehlers-Danlos syndrome, spondylodysplastic type, 1",
            "description": "Ehlers-Danlos syndrome, spondylodysplastic type, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080738"
    ],
    "unlinked_id_list": []
}