{
    "disease_id": "DOID:0080738", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020682", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020682", 
            "name": "Ehlers-Danlos syndrome, progeroid type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020682", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020682", 
            "name": "xylosylprotein 4-Beta-galactosyltransferase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020682", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020682", 
            "name": "proteodermatan sulfate, defective biosynthesis of"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020682", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020682", 
            "name": "dermatan sulfate proteoglycan"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020682", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020682", 
            "name": "Ehlers-Danlos syndrome, spondylodysplastic type, 1; EDSSPD1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020682", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020682", 
            "name": "Ehlers-Danlos syndrome with Short stature and Limb anomalies"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020682", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020682", 
            "name": "galactosyltransferase 1 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020682", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020682", 
            "name": "Xgpt deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020682", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020682", 
            "name": "Ehlers-Danlos syndrome, progeroid type, 1, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020682", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020682", 
            "name": "Ehlers-Danlos syndrome, progeroid type, 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020682", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020682", 
            "name": "Pds, defective biosynthesis of"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020682", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020682", 
            "name": "EDSSPD1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080738", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080738", 
        "name": "Ehlers-Danlos syndrome spondylodysplastic type 1"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080738#disease-associations", 
            "id": "0080738", 
            "database": "Alliance of Genome Resources"
        }
    ]
}