{
    "disease_id": "DOID:0060858",
    "recommended_name": {
        "id": "DOID:0060858",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060858",
        "name": "hypotonia-cystinuria syndrome",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0060858",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060858",
            "name": "cystinuria with mitochondrial disease",
            "description": ""
        },
        {
            "id": "MONDO:0011669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011669",
            "name": "hypotonia-cystinuria syndrome",
            "description": "Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism."
        },
        {
            "id": "MONDO:0011669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011669",
            "name": "homozygous 2P16 deletion syndrome, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0011669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011669",
            "name": "homozygous 2P16 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011669",
            "name": "cystinuria with mitochondrial disease",
            "description": ""
        },
        {
            "id": "MONDO:0011669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011669",
            "name": "hypotonia-cystinuria syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011669",
            "name": "homozygous 2P21 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011669",
            "name": "HCS",
            "description": ""
        },
        {
            "id": "MIM:606407",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606407",
            "name": "Hypotonia-cystinuria syndrome",
            "description": "Hypotonia-cystinuria syndrome"
        }
    ]
}