{
    "disease_id": "DOID:0060837",
    "recommended_name": {
        "id": "DOID:0060837",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060837",
        "name": "isolated microphthalmia 5",
        "description": "An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23."
    },
    "synonyms": [
        {
            "id": "DOID:0060837",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060837",
            "name": "MCOP5",
            "description": ""
        },
        {
            "id": "DOID:0060837",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060837",
            "name": "microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060837",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060837",
            "name": "posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen",
            "description": ""
        },
        {
            "id": "MONDO:0012605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012605",
            "name": "isolated microphthalmia 5",
            "description": "Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene."
        },
        {
            "id": "MONDO:0012605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012605",
            "name": "microphthalmia, isolated type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012605",
            "name": "isolated microphthalmia caused by mutation in MFRP",
            "description": ""
        },
        {
            "id": "MONDO:0012605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012605",
            "name": "Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012605",
            "name": "isolated microphthalmia type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012605",
            "name": "microphthalmia, isolated 5; MCOP5",
            "description": ""
        },
        {
            "id": "MONDO:0012605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012605",
            "name": "MCOP5",
            "description": ""
        },
        {
            "id": "MONDO:0012605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012605",
            "name": "posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen",
            "description": ""
        },
        {
            "id": "MONDO:0012605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012605",
            "name": "microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012605",
            "name": "microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic Disc drusen",
            "description": ""
        },
        {
            "id": "MONDO:0012605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012605",
            "name": "microphthalmia, isolated 5",
            "description": ""
        },
        {
            "id": "MONDO:0012605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012605",
            "name": "MFRP isolated microphthalmia",
            "description": ""
        },
        {
            "id": "MIM:611040",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611040",
            "name": "Microphthalmia, isolated, 5",
            "description": "Microphthalmia, isolated, 5"
        }
    ]
}