{
    "disease_id": "DOID:11211",
    "recommended_name": {
        "id": "DOID:11211",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:11211",
        "name": "buphthalmos",
        "description": "A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss."
    },
    "synonyms": [
        {
            "id": "DOID:11211",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:11211",
            "name": "simple buphthalmos",
            "description": ""
        },
        {
            "id": "MONDO:0009277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009277",
            "name": "glaucoma 3A",
            "description": "An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1."
        },
        {
            "id": "MONDO:0009277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009277",
            "name": "simple buphthalmos",
            "description": ""
        },
        {
            "id": "MONDO:0009277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009277",
            "name": "glaucoma 3, primary congenital, type a",
            "description": ""
        },
        {
            "id": "MONDO:0009277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009277",
            "name": "Primary Congenital glaucoma 3A",
            "description": ""
        },
        {
            "id": "MONDO:0009277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009277",
            "name": "buphthalmos",
            "description": ""
        },
        {
            "id": "MONDO:0009277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009277",
            "name": "GLC3A",
            "description": ""
        },
        {
            "id": "MONDO:0009277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009277",
            "name": "glaucoma 3, primary congenital, A",
            "description": ""
        },
        {
            "id": "MONDO:0009277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009277",
            "name": "glaucoma, primary open angle, adult-onset",
            "description": ""
        },
        {
            "id": "MONDO:0009277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009277",
            "name": "glaucoma, congenital",
            "description": ""
        },
        {
            "id": "MONDO:0009277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009277",
            "name": "glaucoma, primary open angle, juvenile-onset",
            "description": ""
        },
        {
            "id": "MONDO:0009277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009277",
            "name": "glaucoma 3, primary congenital, A; GLC3A",
            "description": ""
        },
        {
            "id": "MIM:231300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/231300",
            "name": "Glaucoma 3, primary congenital, A",
            "description": "Glaucoma 3, primary congenital, A"
        }
    ]
}