{
    "disease_id": "DOID:0070531",
    "recommended_name": {
        "id": "DOID:0070531",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070531",
        "name": "foveal hypoplasia 2",
        "description": "A retinal disease characterized by foveal hypoplasia with decreased visual acuity and nystagmus that has_material_basis_in homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23.3. Optic nerve decussation defects and anterior segment dysgenesis are also frequently seen."
    },
    "synonyms": [
        {
            "id": "DOID:0070531",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070531",
            "name": "FVH2",
            "description": ""
        },
        {
            "id": "DOID:0070531",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070531",
            "name": "foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis",
            "description": ""
        },
        {
            "id": "MONDO:0012216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012216",
            "name": "foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012216",
            "name": "FHONDA syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012216",
            "name": "foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012216",
            "name": "foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis",
            "description": ""
        },
        {
            "id": "MONDO:0012216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012216",
            "name": "foveal hypoplasia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012216",
            "name": "FVH2",
            "description": ""
        },
        {
            "id": "MONDO:0012216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012216",
            "name": "foveal hypoplasia 2",
            "description": ""
        },
        {
            "id": "MIM:609218",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609218",
            "name": "Foveal hypoplasia 2",
            "description": "Foveal hypoplasia 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070531"
    ],
    "unlinked_id_list": []
}