{
    "disease_id": "DOID:0112226",
    "recommended_name": {
        "id": "DOID:0112226",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112226",
        "name": "Bosch-Boonstra-Schaaf optic atrophy syndrome",
        "description": "A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in the NR2F1 gene on chromosome 5q15."
    },
    "synonyms": [
        {
            "id": "DOID:0112226",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112226",
            "name": "BBSOAS",
            "description": ""
        },
        {
            "id": "DOID:0112226",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112226",
            "name": "optic atrophy-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014320",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014320",
            "name": "Bosch-Boonstra-Schaaf optic atrophy syndrome",
            "description": "Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific."
        },
        {
            "id": "MONDO:0014320",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014320",
            "name": "BBSOAS",
            "description": ""
        },
        {
            "id": "MONDO:0014320",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014320",
            "name": "Bosch-Boonstra-Schaaf optic atrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014320",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014320",
            "name": "optic atrophy-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MIM:615722",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615722",
            "name": "Bosch-Boonstra-Schaaf optic atrophy syndrome",
            "description": "Bosch-Boonstra-Schaaf optic atrophy syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112226"
    ],
    "unlinked_id_list": []
}