{
    "disease_id": "DOID:0050664",
    "recommended_name": {
        "id": "DOID:0050664",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050664",
        "name": "Bietti crystalline corneoretinal dystrophy",
        "description": "A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35."
    },
    "synonyms": [
        {
            "id": "DOID:0050664",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050664",
            "name": "Bietti's crystalline dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008865",
            "name": "Bietti crystalline corneoretinal dystrophy",
            "description": "Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness."
        },
        {
            "id": "MONDO:0008865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008865",
            "name": "BCD",
            "description": ""
        },
        {
            "id": "MONDO:0008865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008865",
            "name": "Bietti crystalline corneoretinal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008865",
            "name": "Bietti crystalline retinopathy",
            "description": ""
        },
        {
            "id": "MIM:210370",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/210370",
            "name": "Bietti crystalline corneoretinal dystrophy",
            "description": "Bietti crystalline corneoretinal dystrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050664"
    ],
    "unlinked_id_list": []
}