{
    "disease_id": "DOID:0080387", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014817", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014817", 
            "name": "nephrotic syndrome, type 12"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014817", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014817", 
            "name": "nephrotic syndrome, type 12; NPHS12"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014817", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014817", 
            "name": "NUP93 familial nephrotic syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014817", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014817", 
            "name": "familial nephrotic syndrome caused by mutation in NUP93"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014817", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014817", 
            "name": "NPHS12"
        }, 
        {
            "url": "https://www.omim.org/entry/616892", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:616892", 
            "name": "Nephrotic syndrome 12"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080387", 
        "description": "A familial nephrotic syndrome characterized by early childhood onset of steroid-resistant progressive renal failure with focal segmental glomerulosclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the NUP93 gene on chromosome 16q13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080387", 
        "name": "nephrotic syndrome type 12"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/616892", 
            "id": "616892", 
            "database": "MIM"
        }
    ]
}
