{
    "disease_id": "DOID:0111580",
    "recommended_name": {
        "id": "DOID:0111580",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111580",
        "name": "Behr syndrome",
        "description": "A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in OPA1 on chromosome 3q29."
    },
    "synonyms": [
        {
            "id": "DOID:0111580",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111580",
            "name": "Abortive cerebellar ataxia (BEHRS)",
            "description": ""
        },
        {
            "id": "DOID:0111580",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111580",
            "name": "BEHRS",
            "description": ""
        },
        {
            "id": "DOID:0111580",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111580",
            "name": "optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss",
            "description": ""
        },
        {
            "id": "DOID:0111580",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111580",
            "name": "optic atrophy, infantile hereditary, Behr complicated form of",
            "description": ""
        },
        {
            "id": "MONDO:0008858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008858",
            "name": "Behr syndrome",
            "description": "Behr syndrome is a disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient."
        },
        {
            "id": "MONDO:0008858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008858",
            "name": "optic atrophy, infantile hereditary, with neurologic abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0008858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008858",
            "name": "optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss",
            "description": ""
        },
        {
            "id": "MONDO:0008858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008858",
            "name": "Behr syndrome; BEHRS",
            "description": ""
        },
        {
            "id": "MONDO:0008858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008858",
            "name": "Behr syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008858",
            "name": "BEHRS",
            "description": ""
        },
        {
            "id": "MONDO:0008858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008858",
            "name": "optic atrophy, infantile hereditary, Behr complicated form of",
            "description": ""
        },
        {
            "id": "MIM:210000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/210000",
            "name": "Behr syndrome",
            "description": "Behr syndrome"
        }
    ]
}