{
    "disease_id": "DOID:0111799",
    "recommended_name": {
        "id": "DOID:0111799",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111799",
        "name": "syndromic microphthalmia 1",
        "description": "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in the NAA10 gene on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0111799",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111799",
            "name": "Lenz dysplasia",
            "description": ""
        },
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            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111799",
            "name": "Lenz microphthalmia",
            "description": ""
        },
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            "id": "DOID:0111799",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111799",
            "name": "Lenz type microphthalmia",
            "description": ""
        },
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            "url": "https://disease-ontology.org/term/DOID:0111799",
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            "description": ""
        },
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            "id": "MONDO:0010671",
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            "url": "https://monarchinitiative.org/disease/MONDO:0010671",
            "name": "microphthalmia, syndromic 1",
            "description": ""
        },
        {
            "id": "MONDO:0010671",
            "resource": "MONDO",
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            "description": ""
        },
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            "description": ""
        },
        {
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            "url": "https://monarchinitiative.org/disease/MONDO:0010671",
            "name": "Lenz microphthalmia syndrome",
            "description": ""
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010671",
            "name": "MAA, formerly",
            "description": ""
        },
        {
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            "resource": "MONDO",
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            "name": "MCOPS1",
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        },
        {
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        },
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            "description": ""
        },
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            "id": "MONDO:0010671",
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            "description": ""
        },
        {
            "id": "MONDO:0010671",
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            "url": "https://monarchinitiative.org/disease/MONDO:0010671",
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            "description": ""
        },
        {
            "id": "MONDO:0010671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010671",
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            "description": ""
        },
        {
            "id": "MONDO:0010671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010671",
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            "description": ""
        },
        {
            "id": "MONDO:0010671",
            "resource": "MONDO",
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            "description": ""
        },
        {
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        },
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            "description": ""
        },
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        }
    ],
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            "id": "DOID:0111799",
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        },
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            "categories": []
        },
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            "categories": []
        }
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                }
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                    "name": "2310039H09Rik",
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                    "name": "Ard1",
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                    "name": "DXS707",
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        },
        {
            "uniprot_canonical_ac": "Q6W2J9-1",
            "uniprot_ac": "Q6W2J9",
            "uniprot_id": "BCOR_HUMAN",
            "refseq_ac": "NP_001116855",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "BCL-6 corepressor",
                    "type": "recommended"
                },
                {
                    "name": "BCL-6 coreceptor",
                    "type": "synonym"
                },
                {
                    "name": "BCL-6 corepressor isoform a",
                    "type": "synonym"
                },
                {
                    "name": "BCL-6 interacting corepressor",
                    "type": "synonym"
                },
                {
                    "name": "BCL6 interacting corepressor",
                    "type": "synonym"
                },
                {
                    "name": "BCoR",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BCOR",
                    "type": "recommended"
                },
                {
                    "name": "ANOP2",
                    "type": "synonym"
                },
                {
                    "name": "BCOR",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1575",
                    "type": "synonym"
                },
                {
                    "name": "MAA2",
                    "type": "synonym"
                },
                {
                    "name": "MCOPS2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6W2J9-1",
            "evidence": [
                {
                    "id": "0111799",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111799"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111799"
}