{
    "disease_id": "DOID:0111168", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012994", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012994", 
            "name": "dopa-responsive dystonia due to sepiapterin reductase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012994", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012994", 
            "name": "dystonia, DOPA-responsive, due to sepiapterin reductase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012994", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012994", 
            "name": "DRD due to SRD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012994", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012994", 
            "name": "SRD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012994", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012994", 
            "name": "DYT-SPR"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012994", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012994", 
            "name": "SPR deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012994", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012994", 
            "name": "autosomal recessive sepiapterin reductase-deficient DRD"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111168", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111168", 
            "name": "DRD due to SRD"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111168", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111168", 
            "name": "dopa-responsive dystonia due to sepiapterin reductase deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111168", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111168", 
            "name": "SPR deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111168", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111168", 
            "name": "SRD"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111168", 
        "description": "A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111168", 
        "name": "sepiapterin reductase deficiency"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111168#disease-associations", 
            "id": "0111168", 
            "database": "Alliance of Genome Resources"
        }
    ]
}