{
    "disease_id": "DOID:0060305",
    "recommended_name": {
        "id": "DOID:0060305",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060305",
        "name": "megalocornea",
        "description": "A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0060305",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060305",
            "name": "anterior megalophthalmos",
            "description": ""
        },
        {
            "id": "DOID:0060305",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060305",
            "name": "congenital anterior megalophthalmia",
            "description": ""
        },
        {
            "id": "MONDO:0009576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009576",
            "name": "megalocornea",
            "description": ""
        },
        {
            "id": "MONDO:0009576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009576",
            "name": "megalocornea",
            "description": ""
        },
        {
            "id": "MONDO:0009576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009576",
            "name": "megalocornea (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0010649",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010649",
            "name": "isolated congenital megalocornea",
            "description": "Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma."
        },
        {
            "id": "MONDO:0010649",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010649",
            "name": "congenital anterior megalophthalmia",
            "description": ""
        },
        {
            "id": "MONDO:0010649",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010649",
            "name": "isolated congenital megalocornea",
            "description": ""
        },
        {
            "id": "MONDO:0010649",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010649",
            "name": "megalocornea 1, X-linked, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010649",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010649",
            "name": "MGC1",
            "description": ""
        },
        {
            "id": "MONDO:0010649",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010649",
            "name": "megalocornea",
            "description": ""
        },
        {
            "id": "MIM:309300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/309300",
            "name": "Megalocornea 1, X-linked",
            "description": "Megalocornea 1, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060305"
    ],
    "unlinked_id_list": []
}