{
    "disease_id": "DOID:0111541",
    "recommended_name": {
        "id": "DOID:0111541",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111541",
        "name": "pigmented paravenous chorioretinal atrophy",
        "description": "An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in CRB1 on chromosome 1q31.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111541",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111541",
            "name": "PPRCA",
            "description": ""
        },
        {
            "id": "MONDO:0008246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008246",
            "name": "pigmented paravenous retinochoroidal atrophy",
            "description": "Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision."
        },
        {
            "id": "MONDO:0008246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008246",
            "name": "PPRCA",
            "description": ""
        },
        {
            "id": "MONDO:0008246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008246",
            "name": "PPCRA",
            "description": ""
        },
        {
            "id": "MONDO:0008246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008246",
            "name": "pigmented paravenous chorioretinal atrophy",
            "description": ""
        },
        {
            "id": "MIM:172870",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/172870",
            "name": "Pigmented paravenous chorioretinal atrophy",
            "description": "Pigmented paravenous chorioretinal atrophy"
        }
    ]
}