{
    "disease_id": "DOID:0060852",
    "recommended_name": {
        "id": "DOID:0060852",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060852",
        "name": "Pierson syndrome",
        "description": "A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 on chromosome 3p21."
    },
    "synonyms": [
        {
            "id": "DOID:0060852",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060852",
            "name": "microcoria-congenital nephrosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012184",
            "name": "Pierson syndrome",
            "description": "Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria."
        },
        {
            "id": "MONDO:0012184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012184",
            "name": "microcoria-congenital nephrosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012184",
            "name": "Pierson syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012184",
            "name": "microcoria-congenital nephrotic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012184",
            "name": "microcoria - congenital nephrotic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012184",
            "name": "microcoria - congenital nephrosis",
            "description": ""
        },
        {
            "id": "MIM:609049",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609049",
            "name": "Pierson syndrome",
            "description": "Pierson syndrome"
        }
    ]
}