{
    "disease_id": "DOID:1064",
    "recommended_name": {
        "id": "DOID:1064",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:1064",
        "name": "cystinosis",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:1064",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:1064",
            "name": "cystine storage disease",
            "description": ""
        },
        {
            "id": "MONDO:0100151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100151",
            "name": "nephropathic cystinosis",
            "description": "An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction."
        },
        {
            "id": "MONDO:0100151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100151",
            "name": "Abderhalden Kaufmann Lignac syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0100151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100151",
            "name": "Abderhalden Lignac Kaufmann disease",
            "description": ""
        },
        {
            "id": "MONDO:0100151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100151",
            "name": "Abderhalden-Kaufmann-Lignac syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0100151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100151",
            "name": "Abderhalden-Lignac-Kaufmann disease",
            "description": ""
        },
        {
            "id": "MONDO:0100151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100151",
            "name": "CTNS",
            "description": ""
        },
        {
            "id": "MONDO:0100151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100151",
            "name": "cystinosis, atypical nephropathic",
            "description": ""
        },
        {
            "id": "MONDO:0100151",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100151",
            "name": "cystinosis, nephropathic",
            "description": ""
        },
        {
            "id": "MONDO:0009066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009066",
            "name": "juvenile nephropathic cystinosis",
            "description": "Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes."
        },
        {
            "id": "MONDO:0009066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009066",
            "name": "cystinosis, late-onset juvenile or adolescent nephropathic",
            "description": ""
        },
        {
            "id": "MONDO:0009066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009066",
            "name": "intermediate cystinosis",
            "description": ""
        },
        {
            "id": "MONDO:0009066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009066",
            "name": "juvenile cystinosis",
            "description": ""
        },
        {
            "id": "MONDO:0009066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009066",
            "name": "juvenile nephropathic cystinosis",
            "description": ""
        },
        {
            "id": "MONDO:0009066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009066",
            "name": "cystinosis, intermediate",
            "description": ""
        },
        {
            "id": "MONDO:0009066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009066",
            "name": "cystinosis, late-onset juvenile or adolescent nephropathic type",
            "description": ""
        },
        {
            "id": "MONDO:0009064",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009064",
            "name": "ocular cystinosis",
            "description": "Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations."
        },
        {
            "id": "MONDO:0009064",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009064",
            "name": "adult-onset cystinosis",
            "description": ""
        },
        {
            "id": "MONDO:0009064",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009064",
            "name": "non-nephropathic cystinosis",
            "description": ""
        },
        {
            "id": "MONDO:0009064",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009064",
            "name": "ocular cystinosis",
            "description": ""
        },
        {
            "id": "MONDO:0009064",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009064",
            "name": "cystinosis, ADULT NONNEPHROPATHIC",
            "description": ""
        },
        {
            "id": "MONDO:0009064",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009064",
            "name": "cystinosis, benign Nonnephropathic",
            "description": ""
        },
        {
            "id": "MONDO:0009064",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009064",
            "name": "cystinosis, ocular Nonnephropathic",
            "description": ""
        },
        {
            "id": "MIM:219800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/219800",
            "name": "Cystinosis, nephropathic type",
            "description": "Cystinosis, nephropathic type"
        },
        {
            "id": "MIM:219900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/219900",
            "name": "Cystinosis, late-onset juvenile or adolescent nephropathic type",
            "description": "Cystinosis, late-onset juvenile or adolescent nephropathic type"
        },
        {
            "id": "MIM:219750",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/219750",
            "name": "Cystinosis, adult, non-nephropathic type",
            "description": "Cystinosis, adult, non-nephropathic type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:1064"
    ],
    "unlinked_id_list": []
}