{
    "disease_id": "DOID:0080607",
    "recommended_name": {
        "id": "DOID:0080607",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080607",
        "name": "anterior segment dysgenesis 2",
        "description": "An anterior segment dysgenesis that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the FOXE3 gene on chromosome 1p33."
    },
    "synonyms": [
        {
            "id": "MONDO:0012456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012456",
            "name": "congenital primary aphakia",
            "description": "Congenital primary aphakia (CPA) is characterised by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents."
        },
        {
            "id": "MONDO:0012456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012456",
            "name": "congenital aphakia",
            "description": ""
        },
        {
            "id": "MONDO:0012456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012456",
            "name": "CPA",
            "description": ""
        },
        {
            "id": "MONDO:0012456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012456",
            "name": "aphakia, congenital primary",
            "description": ""
        },
        {
            "id": "MONDO:0012456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012456",
            "name": "ASGD2",
            "description": ""
        },
        {
            "id": "MONDO:0012456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012456",
            "name": "congenital absence of lens",
            "description": ""
        },
        {
            "id": "MONDO:0012456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012456",
            "name": "anterior segment dysgenesis 2",
            "description": ""
        },
        {
            "id": "MONDO:0012456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012456",
            "name": "anterior segment dysgenesis 2; ASGD2",
            "description": ""
        },
        {
            "id": "MIM:610256",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610256",
            "name": "Anterior segment dysgenesis 2",
            "description": "Anterior segment dysgenesis 2"
        }
    ]
}