{
    "disease_id": "DOID:0112123", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010334", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010334", 
            "name": "severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010334", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010334", 
            "name": "deafness, dystonia, and cerebral hypomyelination; DDCH"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010334", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010334", 
            "name": "contiguous ABCD1/Dxs1375E deletion syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010334", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010334", 
            "name": "DDCH"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112123", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112123", 
            "name": "severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112123", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112123", 
            "name": "severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0112123", 
        "description": "A syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the Golgi apparatus that has_material_basis_in heterozygous mutation in BCAP31 on chromosome Xq28.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0112123", 
        "name": "deafness, dystonia, and cerebral hypomyelination"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/300475", 
            "id": "300475", 
            "database": "MIM"
        }
    ]
}