{
    "disease_id": "DOID:0060835",
    "recommended_name": {
        "id": "DOID:0060835",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060835",
        "name": "isolated microphthalmia 6",
        "description": "An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37."
    },
    "synonyms": [
        {
            "id": "DOID:0060835",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060835",
            "name": "MCOP6",
            "description": ""
        },
        {
            "id": "DOID:0060835",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060835",
            "name": "posterior nonsyndromic microphthalmia",
            "description": ""
        },
        {
            "id": "MONDO:0013293",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013293",
            "name": "isolated microphthalmia 6",
            "description": "Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene."
        },
        {
            "id": "MONDO:0013293",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013293",
            "name": "microphthalmia, isolated type 6",
            "description": ""
        },
        {
            "id": "MONDO:0013293",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013293",
            "name": "microphthalmia, posterior nonsyndromic",
            "description": ""
        },
        {
            "id": "MONDO:0013293",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013293",
            "name": "MCOP6",
            "description": ""
        },
        {
            "id": "MONDO:0013293",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013293",
            "name": "PRSS56 isolated microphthalmia",
            "description": ""
        },
        {
            "id": "MONDO:0013293",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013293",
            "name": "microphthalmia, isolated 6; MCOP6",
            "description": ""
        },
        {
            "id": "MONDO:0013293",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013293",
            "name": "posterior nonsyndromic microphthalmia",
            "description": ""
        },
        {
            "id": "MONDO:0013293",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013293",
            "name": "isolated microphthalmia type 6",
            "description": ""
        },
        {
            "id": "MONDO:0013293",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013293",
            "name": "isolated microphthalmia caused by mutation in PRSS56",
            "description": ""
        },
        {
            "id": "MONDO:0013293",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013293",
            "name": "microphthalmia, isolated 6",
            "description": ""
        },
        {
            "id": "MIM:613517",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613517",
            "name": "Microphthalmia, isolated, 6",
            "description": "Microphthalmia, isolated, 6"
        }
    ]
}