{
    "disease_id": "DOID:0111531",
    "recommended_name": {
        "id": "DOID:0111531",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111531",
        "name": "bilateral optic nerve hypoplasia",
        "description": "An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13."
    },
    "synonyms": [
        {
            "id": "DOID:0111531",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111531",
            "name": "ONH",
            "description": ""
        },
        {
            "id": "DOID:0111531",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111531",
            "name": "familial bilateral optic nerve hypoplasia",
            "description": ""
        },
        {
            "id": "DOID:0111531",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111531",
            "name": "isolated optic nerve hypoplasia/aplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008136",
            "name": "isolated optic nerve hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008136",
            "name": "familial bilateral optic nerve hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008136",
            "name": "isolated optic nerve hypoplasia/aplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008136",
            "name": "optic nerve aplasia, bilateral",
            "description": ""
        },
        {
            "id": "MONDO:0008136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008136",
            "name": "optic nerve hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008136",
            "name": "optic nerve hypoplasia, bilateral",
            "description": ""
        },
        {
            "id": "MONDO:0008136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008136",
            "name": "optic nerve hypoplasia, familial bilateral",
            "description": ""
        },
        {
            "id": "MIM:165550",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/165550",
            "name": "Bilateral optic nerve hypoplasia",
            "description": "Bilateral optic nerve hypoplasia"
        }
    ]
}