{
    "disease_id": "DOID:0070352",
    "recommended_name": {
        "id": "DOID:0070352",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070352",
        "name": "stress-induced childhood-onset neurodegeneration with variable ataxia and seizures",
        "description": "A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and has_symptom seizures, muscle weakness, giat ataxia, impaired speach, hearing loss, and cerebellar atrophy."
    },
    "synonyms": [
        {
            "id": "DOID:0070352",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070352",
            "name": "CONDSIAS",
            "description": ""
        },
        {
            "id": "MONDO:0100095",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100095",
            "name": "neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures",
            "description": "Autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene."
        },
        {
            "id": "MONDO:0100095",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100095",
            "name": "CONDSIAS",
            "description": ""
        },
        {
            "id": "MONDO:0100095",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100095",
            "name": "neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures",
            "description": ""
        },
        {
            "id": "MIM:618170",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618170",
            "name": "Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures",
            "description": "Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures"
        }
    ]
}