{
    "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:0009065",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009065",
            "name": "cystinosis, nephropathic",
            "description": "Cystinosis is an inherited condition in which the body accumulates the amino acid cystine (a building block of proteins) within the cells. Excess cystine forms crystals that can build up and damage cells. These crystals can negatively affect many systems in the body, especially the kidneys and eyes. There are three distinct types of cystinosis: nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis. All three types of cystinosis are caused by mutations in the CTNS gene andinherited in an autosomal recessive pattern."
        },
        {
            "id": "MONDO:0009065",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009065",
            "name": "cystinosis, atypical nephropathic",
            "description": ""
        },
        {
            "id": "MONDO:0009065",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009065",
            "name": "cystinosis, infantile nephropathic",
            "description": ""
        },
        {
            "id": "MONDO:0009065",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009065",
            "name": "cystinosin, defect of",
            "description": ""
        },
        {
            "id": "MONDO:0009065",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009065",
            "name": "lysosomal cystine Transport Protein, defect of",
            "description": ""
        },
        {
            "id": "MONDO:0009065",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009065",
            "name": "cystinosis, nephropathic",
            "description": ""
        },
        {
            "id": "MONDO:0009065",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009065",
            "name": "nephropathic cystinosis",
            "description": ""
        },
        {
            "id": "MONDO:0009065",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009065",
            "name": "cystinosis, nephropathic; CTNS",
            "description": ""
        },
        {
            "id": "MONDO:0009065",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009065",
            "name": "CTNS",
            "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 (see this term), 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": "Intermediate 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:0009066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009066",
            "name": "juvenile cystinosis",
            "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 (see this term), 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": "cystinosis, ADULT NONNEPHROPATHIC",
            "description": ""
        },
        {
            "id": "MONDO:0009064",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009064",
            "name": "cystinosis, ocular Nonnephropathic",
            "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": "adult-onset cystinosis",
            "description": ""
        },
        {
            "id": "MONDO:0009064",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009064",
            "name": "cystinosis, benign 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"
        }
    ]
}