{
    "disease_id": "DOID:0060842",
    "recommended_name": {
        "id": "DOID:0060842",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060842",
        "name": "syndromic microphthalmia 16",
        "description": "An isolated microphthalmia that is characterized by bilateral severe microphthalmia or anophthalmia with variable presence of midline defects, including cleft lip and palate, absence of frontal and/or sphenoidal sinuses, and absent pituitary gland and that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21."
    },
    "synonyms": [
        {
            "id": "DOID:0060842",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060842",
            "name": "MCOP3",
            "description": ""
        },
        {
            "id": "DOID:0060842",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060842",
            "name": "isolated microphthalmia 3",
            "description": ""
        },
        {
            "id": "MONDO:0012604",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012604",
            "name": "isolated microphthalmia 3",
            "description": "Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene."
        },
        {
            "id": "MONDO:0012604",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012604",
            "name": "MCOP3",
            "description": ""
        },
        {
            "id": "MONDO:0012604",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012604",
            "name": "RAX isolated microphthalmia",
            "description": ""
        },
        {
            "id": "MONDO:0012604",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012604",
            "name": "isolated microphthalmia 3",
            "description": ""
        },
        {
            "id": "MONDO:0012604",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012604",
            "name": "isolated microphthalmia caused by mutation in RAX",
            "description": ""
        },
        {
            "id": "MONDO:0012604",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012604",
            "name": "isolated microphthalmia caused by mutation in rax",
            "description": ""
        },
        {
            "id": "MONDO:0012604",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012604",
            "name": "isolated microphthalmia type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012604",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012604",
            "name": "microphthalmia, isolated type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012604",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012604",
            "name": "rax isolated microphthalmia",
            "description": ""
        },
        {
            "id": "MONDO:0012604",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012604",
            "name": "microphthalmia, isolated 3",
            "description": ""
        },
        {
            "id": "MIM:611038",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611038",
            "name": "Microphthalmia, syndromic 16",
            "description": "Microphthalmia, syndromic 16"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060842"
    ],
    "unlinked_id_list": []
}