{
    "disease_id": "DOID:0090044",
    "recommended_name": {
        "id": "DOID:0090044",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090044",
        "name": "dystonia 9",
        "description": "A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34."
    },
    "synonyms": [
        {
            "id": "MONDO:0010983",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010983",
            "name": "dystonia 9",
            "description": "A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has_material_basis_in heterozygous mutation in the SLC2A1 gene on chromosome 1p34."
        },
        {
            "id": "MONDO:0010983",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010983",
            "name": "choreoathetosis/spasticity, episodic",
            "description": ""
        },
        {
            "id": "MONDO:0010983",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010983",
            "name": "dystonia type 9",
            "description": ""
        },
        {
            "id": "MONDO:0010983",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010983",
            "name": "Cse choreoathetosis, paroxysmal, with episodic ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0010983",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010983",
            "name": "dystonia 9",
            "description": ""
        },
        {
            "id": "MONDO:0010983",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010983",
            "name": "dystonia 9; DYT9",
            "description": ""
        },
        {
            "id": "MONDO:0010983",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010983",
            "name": "choreoathetosis, kinesigenic, with episodic ataxia and spasticity",
            "description": ""
        },
        {
            "id": "MONDO:0010983",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010983",
            "name": "DYT9",
            "description": ""
        },
        {
            "id": "MONDO:0010983",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010983",
            "name": "episodic choreoathetosis/spasticity",
            "description": ""
        },
        {
            "id": "MONDO:0010983",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010983",
            "name": "paroxysmal dystonic choreathetosis with episodic ataxia and spasticity",
            "description": ""
        },
        {
            "id": "MIM:601042",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601042",
            "name": "Dystonia 9",
            "description": "Dystonia 9"
        }
    ]
}
