{
    "disease_id": "DOID:0111805",
    "recommended_name": {
        "id": "DOID:0111805",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111805",
        "name": "syndromic microphthalmia 6",
        "description": "A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111805",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111805",
            "name": "Bakrania-Ragge syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111805",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111805",
            "name": "MCOPS6",
            "description": ""
        },
        {
            "id": "DOID:0111805",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111805",
            "name": "microphthalmia and pituitary anomalies",
            "description": ""
        },
        {
            "id": "DOID:0111805",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111805",
            "name": "microphthalmia with brain and digit anomalies",
            "description": ""
        },
        {
            "id": "DOID:0111805",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111805",
            "name": "anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia",
            "description": ""
        },
        {
            "id": "DOID:0111805",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111805",
            "name": "syndromic microphthalmia type 6",
            "description": ""
        },
        {
            "id": "MONDO:0011936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011936",
            "name": "microphthalmia with brain and digit anomalies",
            "description": "Microphthalmia with brain and digit anomalies is characterized by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development."
        },
        {
            "id": "MONDO:0011936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011936",
            "name": "Bakrania-Ragge syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011936",
            "name": "MCOPS6",
            "description": ""
        },
        {
            "id": "MONDO:0011936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011936",
            "name": "microphthalmia with brain and digit anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0011936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011936",
            "name": "microphthalmia, syndromic type 6",
            "description": ""
        },
        {
            "id": "MONDO:0011936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011936",
            "name": "syndromic microphthalmia type 6",
            "description": ""
        },
        {
            "id": "MONDO:0011936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011936",
            "name": "anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia",
            "description": ""
        },
        {
            "id": "MONDO:0011936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011936",
            "name": "microphthalmia syndromic 6",
            "description": ""
        },
        {
            "id": "MONDO:0011936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011936",
            "name": "microphthalmia, syndromic 6",
            "description": ""
        },
        {
            "id": "MIM:607932",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607932",
            "name": "Microphthalmia, syndromic, 6",
            "description": "Microphthalmia, syndromic, 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111805"
    ],
    "unlinked_id_list": []
}