{
    "disease_id": "DOID:0110329", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013446", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013446", 
            "name": "Leber congenital amaurosis caused by mutation in RPGRIP1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013446", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013446", 
            "name": "Leber congenital amaurosis 6; LCA6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013446", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013446", 
            "name": "LCA6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013446", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013446", 
            "name": "Leber congenital amaurosis type 6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013446", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013446", 
            "name": "RPGRIP1 Leber congenital amaurosis"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110329", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110329", 
            "name": "LCA6"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110329", 
        "description": "A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110329", 
        "name": "Leber congenital amaurosis 6"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0110329#disease-associations", 
            "id": "0110329", 
            "database": "Alliance of Genome Resources"
        }
    ]
}
