{
    "disease_id": "DOID:0111806", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012413", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012413", 
            "name": "syndromic microphthalmia type 5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012413", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012413", 
            "name": "MCOPS5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012413", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012413", 
            "name": "microphthalmia, syndromic 5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012413", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012413", 
            "name": "syndromic microphthalmia/anophthalmia due to OTX2 mutation"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012413", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012413", 
            "name": "OTX2-related eye disorders"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012413", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012413", 
            "name": "microphthalmia, syndromic type 5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012413", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012413", 
            "name": "microphthalmia syndromic 5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012413", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012413", 
            "name": "syndromic microphthalmia caused by mutation in OTX2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012413", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012413", 
            "name": "retinal dystrophy, early-onset, with or without pituitary dysfunction"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012413", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012413", 
            "name": "OTX2 syndromic microphthalmia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012413", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012413", 
            "name": "microphthalmia, syndromic 5; MCOPS5"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111806", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111806", 
            "name": "MCOPS5"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111806", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111806", 
            "name": "syndromic microphthalmia type 5"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111806", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111806", 
            "name": "syndromic microphthalmia/anophthalmia due to OTX2 mutation"
        }, 
        {
            "url": "https://www.omim.org/entry/610125", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:610125", 
            "name": "Retinal dystrophy, early-onset, with or without pituitary dysfunction"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111806", 
        "description": "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in OTX2 on chromosome 14q22.3.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111806", 
        "name": "syndromic microphthalmia 5"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/610125", 
            "id": "610125", 
            "database": "MIM"
        }
    ]
}
