{
    "disease_id": "DOID:0090005", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009717", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009717", 
            "name": "Schwartz-Jampel syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009717", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009717", 
            "name": "Schwartz-Jampel syndrome, type 1; SJS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009717", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009717", 
            "name": "Schwartz-Jampel syndrome, type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009717", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009717", 
            "name": "Catel-Hempel type dysostosis enchondralis metaepiphysaria"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009717", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009717", 
            "name": "Schwartz-Jampel-Aberfeld syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009717", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009717", 
            "name": "myotonic myopathy, dwarfism, chondrodystrophy, and ocular and Facial abnormalities"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009717", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009717", 
            "name": "Osteochondromuscular dystrophy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009717", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009717", 
            "name": "burton syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009717", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009717", 
            "name": "Aberfeld syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009717", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009717", 
            "name": "Catel-Hempel syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009717", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009717", 
            "name": "myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009717", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009717", 
            "name": "burton skeletal dysplasia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009717", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009717", 
            "name": "SJS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009717", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009717", 
            "name": "dysostosis enchondralis metaepiphysaria, Catel-Hempel type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009717", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009717", 
            "name": "myotonic chondrodystrophy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009717", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009717", 
            "name": "Sja syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009717", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009717", 
            "name": "Schwartz-Jampel syndrome type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009717", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009717", 
            "name": "SJS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009717", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009717", 
            "name": "myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009717", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009717", 
            "name": "Chondrodystrophic myotonia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009717", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009717", 
            "name": "Schwartz Jampel Aberfeld syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009717", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009717", 
            "name": "Schwartz Jampel syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090005", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090005", 
            "name": "Aberfeld syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090005", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090005", 
            "name": "Burton skeletal dysplasia"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090005", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090005", 
            "name": "Burton syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090005", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090005", 
            "name": "Catel-Hempel syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090005", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090005", 
            "name": "Schwartz-Jampel syndrome type 1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090005", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090005", 
            "name": "Schwartz-Jampel-Aberfeld syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090005", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090005", 
            "name": "Catel-Hempel type dysostosis enchondralis metaepiphysaria"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090005", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090005", 
            "name": "myotonic chondrodystrophy"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090005", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090005", 
            "name": "osteochondromuscular dystrophy"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090005", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090005", 
            "name": "myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies"
        }, 
        {
            "url": "https://www.omim.org/entry/255800", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:255800", 
            "name": "Schwartz-Jampel syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0090005", 
        "description": "A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0090005", 
        "name": "Schwartz-Jampel syndrome 1"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/255800", 
            "id": "255800", 
            "database": "MIM"
        }
    ]
}