{
    "disease_id": "DOID:0111801",
    "recommended_name": {
        "id": "DOID:0111801",
        "resource": "Disease Ontology",
        "url": "http://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": "http://disease-ontology.org/term/DOID:0111801",
            "name": "AEG syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111801",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111801",
            "name": "MCOPS3",
            "description": ""
        },
        {
            "id": "DOID:0111801",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111801",
            "name": "SOX2 anophthalmia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111801",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111801",
            "name": "anophthalmia clinical with associated anomalies",
            "description": ""
        },
        {
            "id": "DOID:0111801",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111801",
            "name": "anophthalmia esophageal genital syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111801",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111801",
            "name": "anophthalmia microphthalmia esophageal atresia",
            "description": ""
        },
        {
            "id": "DOID:0111801",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111801",
            "name": "microphthalmia and esophageal atresia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111801",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111801",
            "name": "syndromic microphthalmia type 3",
            "description": ""
        },
        {
            "id": "DOID:0111801",
            "resource": "Disease Ontology",
            "url": "http://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": "Aeg syndrome",
            "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": "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": "microphthalmia and esophageal atresia syndrome",
            "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": "optic nerve hypoplasia and abnormalities of the central nervous system",
            "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": []
}