{
    "disease_id": "DOID:0111806",
    "recommended_name": {
        "id": "DOID:0111806",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111806",
        "name": "syndromic microphthalmia 5",
        "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 the OTX2 gene on chromosome 14q22.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111806",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111806",
            "name": "MCOPS5",
            "description": ""
        },
        {
            "id": "DOID:0111806",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111806",
            "name": "syndromic microphthalmia type 5",
            "description": ""
        },
        {
            "id": "DOID:0111806",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111806",
            "name": "syndromic microphthalmia/anophthalmia due to OTX2 mutation",
            "description": ""
        },
        {
            "id": "MONDO:0012413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012413",
            "name": "syndromic microphthalmia type 5",
            "description": "Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations."
        },
        {
            "id": "MONDO:0012413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012413",
            "name": "MCOPS5",
            "description": ""
        },
        {
            "id": "MONDO:0012413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012413",
            "name": "OTX2 syndromic microphthalmia",
            "description": ""
        },
        {
            "id": "MONDO:0012413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012413",
            "name": "microphthalmia, syndromic type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012413",
            "name": "syndromic microphthalmia caused by mutation in OTX2",
            "description": ""
        },
        {
            "id": "MONDO:0012413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012413",
            "name": "syndromic microphthalmia type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012413",
            "name": "syndromic microphthalmia/anophthalmia due to OTX2 mutation",
            "description": ""
        },
        {
            "id": "MONDO:0012413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012413",
            "name": "OTX2-related eye disorders",
            "description": ""
        },
        {
            "id": "MONDO:0012413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012413",
            "name": "microphthalmia syndromic 5",
            "description": ""
        },
        {
            "id": "MONDO:0012413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012413",
            "name": "microphthalmia, syndromic 5",
            "description": ""
        },
        {
            "id": "MIM:610125",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610125",
            "name": "Retinal dystrophy, early-onset, with or without pituitary dysfunction",
            "description": "Retinal dystrophy, early-onset, with or without pituitary dysfunction"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111806"
    ],
    "unlinked_id_list": []
}