{
    "disease_id": "DOID:0090006", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007352", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007352", 
            "name": "papillorenal syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007352", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007352", 
            "name": "CAKUT with or without ocular abnormalities"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007352", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007352", 
            "name": "optic coloboma, vesicoureteral reflux and renal anomalies"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007352", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007352", 
            "name": "renal-coloboma syndrome with macular abnormalities"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007352", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007352", 
            "name": "optic nerve coloboma with renal disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007352", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007352", 
            "name": "Papillo-renal syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007352", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007352", 
            "name": "papillo-renal syndrome, optic nerve coloboma with renal disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007352", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007352", 
            "name": "PAPILLORENAL syndrome; PAPRS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007352", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007352", 
            "name": "renal-coloboma syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007352", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007352", 
            "name": "optic coloboma, vesicoureteral reflux, and renal anomalies"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007352", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007352", 
            "name": "congenital anomalies of the kidney and urinary tract with or without ocular abnormalities"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007352", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007352", 
            "name": "PAPRS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007352", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007352", 
            "name": "coloboma of optic nerve with renal disease"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090006", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090006", 
            "name": "congenital anomalies of the kidney and urinary tract with or without ocular abnormalities"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090006", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090006", 
            "name": "CAKUT with or without ocular abnormalities"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090006", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090006", 
            "name": "papillo-renal syndrome, optic nerve coloboma with renal disease"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090006", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090006", 
            "name": "optic coloboma, vesicoureteral reflux and renal anomalies"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090006", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090006", 
            "name": "coloboma of optic nerve with renal disease"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090006", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090006", 
            "name": "papillorenal syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090006", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090006", 
            "name": "renal-coloboma syndrome with macular abnormalities"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0090006", 
        "description": "A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0090006", 
        "name": "renal coloboma syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0090006#disease-associations", 
            "id": "0090006", 
            "database": "Alliance of Genome Resources"
        }
    ]
}