{
    "disease_id": "DOID:1064", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009064", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009064", 
            "name": "ocular cystinosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009064", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009064", 
            "name": "cystinosis, ADULT NONNEPHROPATHIC"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009064", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009064", 
            "name": "cystinosis, ocular Nonnephropathic"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009064", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009064", 
            "name": "non-nephropathic cystinosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009064", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009064", 
            "name": "adult-onset cystinosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009064", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009064", 
            "name": "cystinosis, benign Nonnephropathic"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:1064", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:1064", 
            "name": "cystine storage disease"
        }, 
        {
            "url": "https://www.omim.org/entry/219750", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:219750", 
            "name": "Cystinosis, adult, non-nephropathic type"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:1064", 
        "description": "A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17.", 
        "resource": "Disease Ontology", 
        "id": "DOID:1064", 
        "name": "cystinosis"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/219750", 
            "id": "219750", 
            "database": "MIM"
        }, 
        {
            "url": "https://www.omim.org/entry/219800", 
            "id": "219800", 
            "database": "MIM"
        }, 
        {
            "url": "https://www.omim.org/entry/219900", 
            "id": "219900", 
            "database": "MIM"
        }
    ]
}