{
    "disease_id": "DOID:0070489",
    "recommended_name": {
        "id": "DOID:0070489",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070489",
        "name": "classic dopamine transporter deficiency syndrome",
        "description": "A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid."
    },
    "synonyms": [
        {
            "id": "DOID:0070489",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070489",
            "name": "PKDYS1",
            "description": ""
        },
        {
            "id": "DOID:0070489",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070489",
            "name": "classic DTDS",
            "description": ""
        },
        {
            "id": "DOID:0070489",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070489",
            "name": "infantile parkinsonism-dystonia 1",
            "description": ""
        },
        {
            "id": "MONDO:0054835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054835",
            "name": "classic dopamine transporter deficiency syndrome",
            "description": "Classic Dopamine Transporter Deficiency Syndrome describes a subset of SLC6A3-related DTDS cases which present in early infancy. This disorder is usually first identified by neonatal distress and irritability, feeding difficulties, and motor developmental delay."
        },
        {
            "id": "MONDO:0054835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054835",
            "name": "PKDYS",
            "description": ""
        },
        {
            "id": "MONDO:0054835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054835",
            "name": "PKDYS1",
            "description": ""
        },
        {
            "id": "MONDO:0054835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054835",
            "name": "Parkinsonism-dystonia, infantile, 1",
            "description": ""
        },
        {
            "id": "MONDO:0054835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054835",
            "name": "classic DTDS",
            "description": ""
        },
        {
            "id": "MONDO:0054835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054835",
            "name": "dopamine transporter deficiency syndrome",
            "description": ""
        },
        {
            "id": "MIM:613135",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613135",
            "name": "Parkinsonism-dystonia 1, infantile-onset",
            "description": "Parkinsonism-dystonia 1, infantile-onset"
        }
    ]
}