{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0060842",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060842",
            "categories": []
        },
        {
            "id": "MONDO:0012604",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012604",
            "categories": []
        },
        {
            "id": "MIM:611038",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611038",
            "categories": []
        }
    ],
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            "uniprot_ac": "O42358",
            "uniprot_id": "RX3_DANRE",
            "refseq_ac": "NP_571302",
            "glycoprotein": "no",
            "species": [
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
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                    "name": "Retinal homeobox protein Rx3",
                    "type": "recommended"
                },
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                    "name": "chk",
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                },
                {
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                },
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                    "name": "eyes missing",
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            ],
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                    "name": "Retinal homeobox protein Rx2",
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            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
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                }
            ],
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                },
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                    "name": "eyeless 1",
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                {
                    "name": "retina and anterior neural fold homeobox protein",
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                },
                {
                    "name": "retinal homeobox protein Rx",
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            ],
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                {
                    "name": "Rax",
                    "type": "recommended"
                },
                {
                    "name": "7530406A22Rik",
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                },
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                    "name": "E130303K03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rax",
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                },
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                    "name": "Rx",
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                },
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                    "name": "ey-1",
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                },
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            ]
        },
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            "uniprot_canonical_ac": "Q9Y2V3-1",
            "uniprot_ac": "Q9Y2V3",
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            "refseq_ac": "NP_038463",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinal homeobox protein Rx",
                    "type": "recommended"
                },
                {
                    "name": "Retina and anterior neural fold homeobox protein",
                    "type": "synonym"
                },
                {
                    "name": "retina and anterior neural fold homeobox protein",
                    "type": "synonym"
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                {
                    "name": "retinal homeobox protein Rx",
                    "type": "synonym"
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            ],
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                {
                    "name": "RAX",
                    "type": "recommended"
                },
                {
                    "name": "MCOP3",
                    "type": "synonym"
                },
                {
                    "name": "MCOPS16",
                    "type": "synonym"
                },
                {
                    "name": "RAX1",
                    "type": "synonym"
                },
                {
                    "name": "RAX",
                    "type": "synonym"
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                    "name": "RX",
                    "type": "synonym"
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            ],
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                    "id": "0060842",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060842"
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            "uniprot_ac": "Q04116",
            "uniprot_id": "YHP1_YEAST",
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            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
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            ],
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                {
                    "name": "Homeobox protein YHP1",
                    "type": "recommended"
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                    "name": "Yhp1p",
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                    "type": "recommended"
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                    "id": "0060842",
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                {
                    "name": "Rattus norvegicus",
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                    "name": "Drosophila melanogaster",
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                    "name": "drosophila Rx",
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    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060842"
}