{
    "disease_id": "DOID:0070530",
    "recommended_name": {
        "id": "DOID:0070530",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070530",
        "name": "foveal hypoplasia 1",
        "description": "A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13."
    },
    "synonyms": [
        {
            "id": "DOID:0070530",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070530",
            "name": "foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract",
            "description": ""
        },
        {
            "id": "DOID:0070530",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070530",
            "name": "FVH1",
            "description": ""
        },
        {
            "id": "MONDO:0007628",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007628",
            "name": "foveal hypoplasia 1",
            "description": "Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene."
        },
        {
            "id": "MONDO:0007628",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007628",
            "name": "PAX6 foveal hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007628",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007628",
            "name": "foveal hypoplasia 1",
            "description": ""
        },
        {
            "id": "MONDO:0007628",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007628",
            "name": "foveal hypoplasia caused by mutation in PAX6",
            "description": ""
        },
        {
            "id": "MONDO:0007628",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007628",
            "name": "foveal hypoplasia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007628",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007628",
            "name": "FVH1",
            "description": ""
        },
        {
            "id": "MONDO:0007628",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007628",
            "name": "O Donnell Pappas syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007628",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007628",
            "name": "foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts",
            "description": ""
        },
        {
            "id": "MONDO:0007628",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007628",
            "name": "foveal hypoplasia, presenile cataract",
            "description": ""
        },
        {
            "id": "MIM:136520",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/136520",
            "name": "Foveal hypoplasia 1",
            "description": "Foveal hypoplasia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070530"
    ],
    "unlinked_id_list": []
}