{
    "disease_id": "DOID:0060858", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011669", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011669", 
            "name": "homozygous 2P16 deletion syndrome, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011669", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011669", 
            "name": "homozygous 2P16 deletion syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011669", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011669", 
            "name": "cystinuria with mitochondrial disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011669", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011669", 
            "name": "homozygous 2P21 deletion syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011669", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011669", 
            "name": "HCS"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060858", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060858", 
            "name": "cystinuria with mitochondrial disease"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060858", 
        "description": "A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060858", 
        "name": "hypotonia-cystinuria syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060858#disease-associations", 
            "id": "0060858", 
            "database": "Alliance of Genome Resources"
        }
    ]
}