{
    "disease_id": "DOID:0111801",
    "recommended_name": {
        "id": "DOID:0111801",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111801",
        "name": "syndromic microphthalmia 3",
        "description": "A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that has_material_basis_in heterozygous mutation in the SOX2 gene on chromosome 3q26.33."
    },
    "synonyms": [
        {
            "id": "DOID:0111801",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111801",
            "name": "AEG syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111801",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111801",
            "name": "MCOPS3",
            "description": ""
        },
        {
            "id": "DOID:0111801",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111801",
            "name": "SOX2 anophthalmia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111801",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111801",
            "name": "anophthalmia clinical with associated anomalies",
            "description": ""
        },
        {
            "id": "DOID:0111801",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111801",
            "name": "anophthalmia esophageal genital syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111801",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111801",
            "name": "anophthalmia microphthalmia esophageal atresia",
            "description": ""
        },
        {
            "id": "DOID:0111801",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111801",
            "name": "microphthalmia and esophageal atresia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111801",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111801",
            "name": "syndromic microphthalmia type 3",
            "description": ""
        },
        {
            "id": "DOID:0111801",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111801",
            "name": "anophthalmia/microphthalmia-esophageal atresia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008799",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008799",
            "name": "anophthalmia/microphthalmia-esophageal atresia syndrome",
            "description": "Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula."
        },
        {
            "id": "MONDO:0008799",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008799",
            "name": "MCOPS3",
            "description": ""
        },
        {
            "id": "MONDO:0008799",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008799",
            "name": "anophthalmia/microphthalmia-esophageal atresia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008799",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008799",
            "name": "microphthalmia, syndromic type 3",
            "description": ""
        },
        {
            "id": "MONDO:0008799",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008799",
            "name": "syndromic microphthalmia type 3",
            "description": ""
        },
        {
            "id": "MONDO:0008799",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008799",
            "name": "SOX2 anophthalmia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008799",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008799",
            "name": "SOX2-related eye disorders",
            "description": ""
        },
        {
            "id": "MONDO:0008799",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008799",
            "name": "anophthalmia clinical with associated anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0008799",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008799",
            "name": "anophthalmia esophageal genital syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008799",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008799",
            "name": "anophthalmia microphthalmia esophageal atresia",
            "description": ""
        },
        {
            "id": "MONDO:0008799",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008799",
            "name": "microphthalmia, syndromic 3",
            "description": ""
        },
        {
            "id": "MONDO:0008799",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008799",
            "name": "syndromic microphthalmia, type 3",
            "description": ""
        },
        {
            "id": "MIM:206900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/206900",
            "name": "Microphthalmia, syndromic, 3",
            "description": "Microphthalmia, syndromic, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111801"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111801",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111801",
            "categories": []
        },
        {
            "id": "MONDO:0008799",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008799",
            "categories": []
        },
        {
            "id": "MIM:206900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/206900",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6P0E1-1",
            "uniprot_ac": "Q6P0E1",
            "uniprot_id": "SOX2_DANRE",
            "refseq_ac": "NP_998283",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor Sox-2",
                    "type": "recommended"
                },
                {
                    "name": "SRY (sex determining region Y)-box 2",
                    "type": "synonym"
                },
                {
                    "name": "SRY-box containing gene 2",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor SOX2",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor Sox-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sox2",
                    "type": "recommended"
                },
                {
                    "name": "cb236",
                    "type": "synonym"
                },
                {
                    "name": "sox2",
                    "type": "synonym"
                },
                {
                    "name": "soxp",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb83g04",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc14d07",
                    "type": "synonym"
                },
                {
                    "name": "zgc:65860",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77389",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P0E1-1",
            "evidence": [
                {
                    "id": "0111801",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111801"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48432-1",
            "uniprot_ac": "P48432",
            "uniprot_id": "SOX2_MOUSE",
            "refseq_ac": "NP_035573",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor SOX-2",
                    "type": "recommended"
                },
                {
                    "name": "SRY-box containing gene 2",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor SOX-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sox2",
                    "type": "recommended"
                },
                {
                    "name": "Sox-2",
                    "type": "synonym"
                },
                {
                    "name": "Sox2",
                    "type": "synonym"
                },
                {
                    "name": "lcc",
                    "type": "synonym"
                },
                {
                    "name": "ysb",
                    "type": "synonym"
                }
            ],
            "record_id": "P48432-1",
            "evidence": [
                {
                    "id": "0111801",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111801"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48431-1",
            "uniprot_ac": "P48431",
            "uniprot_id": "SOX2_HUMAN",
            "refseq_ac": "NP_003097",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor SOX-2",
                    "type": "recommended"
                },
                {
                    "name": "SRY (sex determining region Y)-box 2",
                    "type": "synonym"
                },
                {
                    "name": "SRY-box 2",
                    "type": "synonym"
                },
                {
                    "name": "SRY-related HMG-box gene 2",
                    "type": "synonym"
                },
                {
                    "name": "sex determining region Y-box 2",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor SOX-2",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor SOX2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SOX2",
                    "type": "recommended"
                },
                {
                    "name": "ANOP3",
                    "type": "synonym"
                },
                {
                    "name": "MCOPS3",
                    "type": "synonym"
                },
                {
                    "name": "SOX2",
                    "type": "synonym"
                }
            ],
            "record_id": "P48431-1",
            "evidence": [
                {
                    "id": "206900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/206900"
                },
                {
                    "id": "0111801",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111801"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LE60-1",
            "uniprot_ac": "A0ABK0LE60",
            "uniprot_id": "A0ABK0LE60_RAT",
            "refseq_ac": "NP_001102651",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SRY (sex determining region Y)-box 2",
                    "type": "synonym"
                },
                {
                    "name": "SRY box 2",
                    "type": "synonym"
                },
                {
                    "name": "SRY-box containing gene 2",
                    "type": "synonym"
                },
                {
                    "name": "SRY-box transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor SOX-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sox2",
                    "type": "recommended"
                },
                {
                    "name": "RGD1565646",
                    "type": "synonym"
                },
                {
                    "name": "Sox2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LE60-1",
            "evidence": [
                {
                    "id": "0111801",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111801"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24533-1",
            "uniprot_ac": "Q24533",
            "uniprot_id": "DICH_DROME",
            "refseq_ac": "NP_001261830",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "SOX domain-containing protein dichaete",
                    "type": "recommended"
                },
                {
                    "name": "CG5893-PB",
                    "type": "synonym"
                },
                {
                    "name": "D-PB",
                    "type": "synonym"
                },
                {
                    "name": "Fish-Hook",
                    "type": "synonym"
                },
                {
                    "name": "Protein fish-hook",
                    "type": "synonym"
                },
                {
                    "name": "Sox box protein 70D",
                    "type": "synonym"
                },
                {
                    "name": "Sry-related DM10",
                    "type": "synonym"
                },
                {
                    "name": "Sry-related DM23",
                    "type": "synonym"
                },
                {
                    "name": "Sry-related DM33",
                    "type": "synonym"
                },
                {
                    "name": "Sry-related DM36",
                    "type": "synonym"
                },
                {
                    "name": "Sry-related DM63",
                    "type": "synonym"
                },
                {
                    "name": "dichaete, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "dichaete",
                    "type": "synonym"
                },
                {
                    "name": "dicheate",
                    "type": "synonym"
                },
                {
                    "name": "fish hook",
                    "type": "synonym"
                },
                {
                    "name": "lethal of dichaete",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "D",
                    "type": "recommended"
                },
                {
                    "name": "CG5893",
                    "type": "synonym"
                },
                {
                    "name": "DM10",
                    "type": "synonym"
                },
                {
                    "name": "DM23",
                    "type": "synonym"
                },
                {
                    "name": "DM33",
                    "type": "synonym"
                },
                {
                    "name": "DM36",
                    "type": "synonym"
                },
                {
                    "name": "DM63",
                    "type": "synonym"
                },
                {
                    "name": "Dic",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5893",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5893",
                    "type": "synonym"
                },
                {
                    "name": "D",
                    "type": "synonym"
                },
                {
                    "name": "SOX70D",
                    "type": "synonym"
                },
                {
                    "name": "SOX70",
                    "type": "synonym"
                },
                {
                    "name": "SOXB2.1",
                    "type": "synonym"
                },
                {
                    "name": "SOXDP",
                    "type": "synonym"
                },
                {
                    "name": "Sox B2-1",
                    "type": "synonym"
                },
                {
                    "name": "Sox70D",
                    "type": "synonym"
                },
                {
                    "name": "Sox70",
                    "type": "synonym"
                },
                {
                    "name": "Sry-rDM10",
                    "type": "synonym"
                },
                {
                    "name": "Sry-rDM23",
                    "type": "synonym"
                },
                {
                    "name": "Sry-rDM33",
                    "type": "synonym"
                },
                {
                    "name": "Sry-rDM36",
                    "type": "synonym"
                },
                {
                    "name": "Sry-rDM63",
                    "type": "synonym"
                },
                {
                    "name": "d",
                    "type": "synonym"
                },
                {
                    "name": "fish",
                    "type": "synonym"
                },
                {
                    "name": "l(3)LG9",
                    "type": "synonym"
                },
                {
                    "name": "loD",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24533-1",
            "evidence": [
                {
                    "id": "0111801",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111801"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111801"
}