{
    "disease_id": "DOID:0060844",
    "recommended_name": {
        "id": "DOID:0060844",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060844",
        "name": "Norrie disease",
        "description": "A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11."
    },
    "synonyms": [
        {
            "id": "DOID:0060844",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060844",
            "name": "Episkopi blindness",
            "description": ""
        },
        {
            "id": "DOID:0060844",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060844",
            "name": "Norrie-Warburg disease",
            "description": ""
        },
        {
            "id": "DOID:0060844",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060844",
            "name": "atrophia bulborum hereditaria",
            "description": ""
        },
        {
            "id": "MONDO:0010691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010691",
            "name": "Norrie disease",
            "description": "Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders."
        },
        {
            "id": "MONDO:0010691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010691",
            "name": "Norrie syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010691",
            "name": "Episkopi blindness",
            "description": ""
        },
        {
            "id": "MONDO:0010691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010691",
            "name": "fetal iritis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010691",
            "name": "nd",
            "description": ""
        },
        {
            "id": "MONDO:0010691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010691",
            "name": "atrophia bulborum hereditaria",
            "description": ""
        },
        {
            "id": "MONDO:0010691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010691",
            "name": "Norrie-Warburg syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010691",
            "name": "Anderson-Warburg syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010691",
            "name": "pseudoglioma",
            "description": ""
        },
        {
            "id": "MONDO:0010691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010691",
            "name": "Norrie-Warburg disease",
            "description": ""
        },
        {
            "id": "MONDO:0010691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010691",
            "name": "Norrie disease",
            "description": ""
        },
        {
            "id": "MONDO:0010691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010691",
            "name": "NDP",
            "description": ""
        },
        {
            "id": "MONDO:0010691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010691",
            "name": "Norrie disease; nd",
            "description": ""
        },
        {
            "id": "MIM:310600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/310600",
            "name": "Norrie disease",
            "description": "Norrie disease"
        }
    ]
}