{
    "disease_id": "DOID:0050802", 
    "synonyms": [
        {
            "url": "http://disease-ontology.org/term/DOID:0050802", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0050802", 
            "name": "EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0050802", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0050802", 
            "name": "Ehlers-Danlos syndrome progeroid type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014139", 
            "description": "Any Ehlers-Danlos syndrome progeroid type in which the cause of the disease is a mutation in the B3GALT6 gene.", 
            "resource": "MONDO", 
            "id": "MONDO:0014139", 
            "name": "Ehlers-Danlos syndrome, progeroid type, 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014139", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014139", 
            "name": "Ehlers-Danlos syndrome, spondylodysplastic type, 2; EDSSPD2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014139", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014139", 
            "name": "EDSP2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014139", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014139", 
            "name": "Ehlers-Danlos syndrome, progeroid type, 2, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014139", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014139", 
            "name": "Ehlers-Danlos syndrome progeroid type caused by mutation in B3GALT6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014139", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014139", 
            "name": "EDSSPD2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014139", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014139", 
            "name": "B3GALT6 Ehlers-Danlos syndrome progeroid type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014139", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014139", 
            "name": "Ehlers-Danlos syndrome, progeroid type, 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014139", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014139", 
            "name": "Ehlers-Danlos syndrome, spondylodysplastic type, 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014139", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014139", 
            "name": "Ehlers-Danlos syndrome, progeroid type, 2; EDSP2"
        }, 
        {
            "url": "https://www.omim.org/entry/615349", 
            "description": "Ehlers-Danlos syndrome, spondylodysplastic type, 2", 
            "resource": "MIM", 
            "id": "MIM:615349", 
            "name": "Ehlers-Danlos syndrome, spondylodysplastic type, 2"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0050802", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0050802", 
        "name": "Ehlers-Danlos syndrome spondylodysplastic type 2"
    }
}
