{
    "disease_id": "DOID:0111538",
    "recommended_name": {
        "id": "DOID:0111538",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111538",
        "name": "paramyotonia congenita of Von Eulenburg",
        "description": "A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in the SCN4A gene on chromosome 17q23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111538",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111538",
            "name": "Eulenburg disease",
            "description": ""
        },
        {
            "id": "DOID:0111538",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111538",
            "name": "PMC",
            "description": ""
        },
        {
            "id": "DOID:0111538",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111538",
            "name": "Von Eulenburg paramyotonia congenita",
            "description": ""
        },
        {
            "id": "DOID:0111538",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111538",
            "name": "myotonia congenita intermittens",
            "description": ""
        },
        {
            "id": "DOID:0111538",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111538",
            "name": "paralysis periodica paramyotonica",
            "description": ""
        },
        {
            "id": "DOID:0111538",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111538",
            "name": "paramyotonia congenita",
            "description": ""
        },
        {
            "id": "MONDO:0008195",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008195",
            "name": "paramyotonia congenita of Von Eulenburg",
            "description": "Paramyotonia congenita of Von Eulenburg is characterized by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3)."
        },
        {
            "id": "MONDO:0008195",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008195",
            "name": "paramyotonia congenita",
            "description": ""
        },
        {
            "id": "MONDO:0008195",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008195",
            "name": "paramyotonia congenita of Von Eulenburg",
            "description": ""
        },
        {
            "id": "MONDO:0008195",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008195",
            "name": "Eulenburg disease",
            "description": ""
        },
        {
            "id": "MONDO:0008195",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008195",
            "name": "PMC",
            "description": ""
        },
        {
            "id": "MONDO:0008195",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008195",
            "name": "Von Eulenburg paramyotonia congenita",
            "description": ""
        },
        {
            "id": "MONDO:0008195",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008195",
            "name": "myotonia congenita intermittens",
            "description": ""
        },
        {
            "id": "MIM:168300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/168300",
            "name": "Paramyotonia congenita",
            "description": "Paramyotonia congenita"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111538"
    ],
    "unlinked_id_list": []
}