{
    "disease_id": "DOID:0090005",
    "recommended_name": {
        "id": "DOID:0090005",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090005",
        "name": "Schwartz-Jampel syndrome 1",
        "description": "A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0090005",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090005",
            "name": "Aberfeld syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090005",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090005",
            "name": "Burton skeletal dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0090005",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090005",
            "name": "Burton syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090005",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090005",
            "name": "Catel-Hempel syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090005",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090005",
            "name": "Schwartz-Jampel syndrome type 1",
            "description": ""
        },
        {
            "id": "DOID:0090005",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090005",
            "name": "Schwartz-Jampel-Aberfeld syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090005",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090005",
            "name": "Catel-Hempel type dysostosis enchondralis metaepiphysaria",
            "description": ""
        },
        {
            "id": "DOID:0090005",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090005",
            "name": "myotonic chondrodystrophy",
            "description": ""
        },
        {
            "id": "DOID:0090005",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090005",
            "name": "osteochondromuscular dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0090005",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090005",
            "name": "myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0100435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100435",
            "name": "Schwartz-Jampel syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0100435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100435",
            "name": "SJA syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0100435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100435",
            "name": "SJS1",
            "description": ""
        },
        {
            "id": "MONDO:0100435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100435",
            "name": "Schwartz-Jampel syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0100435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100435",
            "name": "Schwartz-Jampel syndrome, type 1",
            "description": ""
        },
        {
            "id": "MIM:255800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/255800",
            "name": "Schwartz-Jampel syndrome",
            "description": "Schwartz-Jampel syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090005"
    ],
    "unlinked_id_list": []
}