{
    "disease_id": "DOID:0111809",
    "recommended_name": {
        "id": "DOID:0111809",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111809",
        "name": "syndromic microphthalmia 2",
        "description": "A syndromic microphthalmia characterized by ocular defects including microphthalmia, microcornea, and congentital cataract; facial dysmorphism including septate nasal cartilage with high nasal bridge; congenital heart defects, most commonly a septal defect; and dental anomalies, most commonly persistent primary teeth and radiculomegaly that has_material_basis_in mutation in the BCL6 corepressor gene on chromosome Xp11."
    },
    "synonyms": [
        {
            "id": "DOID:0111809",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111809",
            "name": "ANOP2",
            "description": ""
        },
        {
            "id": "DOID:0111809",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111809",
            "name": "MAA2",
            "description": ""
        },
        {
            "id": "DOID:0111809",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111809",
            "name": "MCOPS2",
            "description": ""
        },
        {
            "id": "DOID:0111809",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111809",
            "name": "OFCD syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111809",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111809",
            "name": "oculofaciocardiodental syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111809",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111809",
            "name": "syndromic microphthalmia type 2",
            "description": ""
        },
        {
            "id": "DOID:0111809",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111809",
            "name": "cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111809",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111809",
            "name": "microphthalmia cataracts radiculomegaly and septal heart defects",
            "description": ""
        },
        {
            "id": "MONDO:0010261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010261",
            "name": "microphthalmia, syndromic 2",
            "description": ""
        },
        {
            "id": "MONDO:0010261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010261",
            "name": "OFCD syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010261",
            "name": "cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010261",
            "name": "microphthalmia syndromic 2",
            "description": ""
        },
        {
            "id": "MONDO:0010261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010261",
            "name": "microphthalmia, syndromic 2",
            "description": ""
        },
        {
            "id": "MONDO:0010261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010261",
            "name": "microphthalmia, syndromic 2, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010261",
            "name": "microphthalmia, syndromic type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010261",
            "name": "oculofaciocardiodental syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010261",
            "name": "ANOP2 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0010261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010261",
            "name": "MAA2 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0010261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010261",
            "name": "MCOPS2",
            "description": ""
        },
        {
            "id": "MONDO:0010261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010261",
            "name": "microphthalmia cataracts radiculomegaly and septal heart defects",
            "description": ""
        },
        {
            "id": "MONDO:0010261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010261",
            "name": "syndromic microphthalmia type 2",
            "description": ""
        },
        {
            "id": "MIM:300166",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300166",
            "name": "Microphthalmia, syndromic, 2",
            "description": "Microphthalmia, syndromic, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111809"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111809",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111809",
            "categories": []
        },
        {
            "id": "MONDO:0010261",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010261",
            "categories": []
        },
        {
            "id": "MIM:300166",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300166",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1RCL8-1",
            "uniprot_ac": "F1RCL8",
            "uniprot_id": "F1RCL8_DANRE",
            "refseq_ac": "XP_005174000",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "BCL-6 corepressor isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bcor",
                    "type": "recommended"
                },
                {
                    "name": "bcor",
                    "type": "synonym"
                }
            ],
            "record_id": "F1RCL8-1",
            "evidence": [
                {
                    "id": "0111809",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111809"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CGN4-1",
            "uniprot_ac": "Q8CGN4",
            "uniprot_id": "BCOR_MOUSE",
            "refseq_ac": "NP_001161793",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "BCL-6 corepressor",
                    "type": "recommended"
                },
                {
                    "name": "BCL-6 corepressor isoform d",
                    "type": "synonym"
                },
                {
                    "name": "BCL-6 corepressor",
                    "type": "synonym"
                },
                {
                    "name": "BCoR",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bcor",
                    "type": "recommended"
                },
                {
                    "name": "2900008C10Rik",
                    "type": "synonym"
                },
                {
                    "name": "5830466J11Rik",
                    "type": "synonym"
                },
                {
                    "name": "8430401K06Rik",
                    "type": "synonym"
                },
                {
                    "name": "BcorR",
                    "type": "synonym"
                },
                {
                    "name": "Bcor",
                    "type": "synonym"
                },
                {
                    "name": "D930024N20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1575",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1575",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CGN4-1",
            "evidence": [
                {
                    "id": "0111809",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111809"
                }
            ]
        },
        {
            "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": "300166",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300166"
                },
                {
                    "id": "0111809",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111809"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LBN1-1",
            "uniprot_ac": "A0ABK0LBN1",
            "uniprot_id": "A0ABK0LBN1_RAT",
            "refseq_ac": "NP_001178515",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "BCL-6 corepressor isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "BCL-6 corepressor",
                    "type": "synonym"
                },
                {
                    "name": "BCL6 co-repressor",
                    "type": "synonym"
                },
                {
                    "name": "Bcl6 interacting corepressor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bcor",
                    "type": "recommended"
                },
                {
                    "name": "Bcor",
                    "type": "synonym"
                },
                {
                    "name": "RGD1562735",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LBN1-1",
            "evidence": [
                {
                    "id": "0111809",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111809"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IQT4-1",
            "uniprot_ac": "Q8IQT4",
            "uniprot_id": "Q8IQT4_DROME",
            "refseq_ac": "NP_001262022",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein piccolo",
                    "type": "recommended"
                },
                {
                    "name": "CG14073-PC",
                    "type": "synonym"
                },
                {
                    "name": "nirvana",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nirvana",
                    "type": "recommended"
                },
                {
                    "name": "CG14073",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14073",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14073",
                    "type": "synonym"
                },
                {
                    "name": "Nirvana",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IQT4-1",
            "evidence": [
                {
                    "id": "0111809",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111809"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111809"
}