{
    "disease_id": "DOID:0112123",
    "recommended_name": {
        "id": "DOID:0112123",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112123",
        "name": "deafness, dystonia, and cerebral hypomyelination",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0112123",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112123",
            "name": "severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112123",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112123",
            "name": "severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010334",
            "name": "severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome",
            "description": "Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy)."
        },
        {
            "id": "MONDO:0010334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010334",
            "name": "deafness, dystonia, and cerebral hypomyelination; DDCH",
            "description": ""
        },
        {
            "id": "MONDO:0010334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010334",
            "name": "deafness, dystonia, and cerebral hypomyelination",
            "description": ""
        },
        {
            "id": "MONDO:0010334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010334",
            "name": "contiguous ABCD1/Dxs1375E deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010334",
            "name": "DDCH",
            "description": ""
        },
        {
            "id": "MIM:300475",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300475",
            "name": "Deafness, dystonia, and cerebral hypomyelination",
            "description": "Deafness, dystonia, and cerebral hypomyelination"
        }
    ]
}