{
    "disease_id": "DOID:0060462", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014343", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014343", 
            "name": "Desbuquois dysplasia 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014343", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014343", 
            "name": "XYLT1 Desbuquois dysplasia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014343", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014343", 
            "name": "Desbuquois dysplasia type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014343", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014343", 
            "name": "Desbuquois dysplasia caused by mutation in XYLT1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014343", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014343", 
            "name": "DBQD2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014343", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014343", 
            "name": "Desbuquois dysplasia 2; DBQD2"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060462", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060462", 
            "name": "Desbuquois syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060462", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060462", 
            "name": "micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060462", 
        "description": "An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060462", 
        "name": "Desbuquois dysplasia"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060462#disease-associations", 
            "id": "0060462", 
            "database": "Alliance of Genome Resources"
        }
    ]
}