{
    "disease_id": "DOID:0112344",
    "recommended_name": {
        "id": "DOID:0112344",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112344",
        "name": "hereditary spastic paraplegia 79B",
        "description": "A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13."
    },
    "synonyms": [
        {
            "id": "DOID:0112344",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112344",
            "name": "early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112344",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112344",
            "name": "SPG79B",
            "description": ""
        },
        {
            "id": "DOID:0112344",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112344",
            "name": "autosomal recessive spastic paraplegia 79B",
            "description": ""
        },
        {
            "id": "DOID:0112344",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112344",
            "name": "spastic paraplegia 79 autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0014209",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014209",
            "name": "early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome",
            "description": "Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis."
        },
        {
            "id": "MONDO:0014209",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014209",
            "name": "NDGOA",
            "description": ""
        },
        {
            "id": "MONDO:0014209",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014209",
            "name": "SPG79",
            "description": ""
        },
        {
            "id": "MONDO:0014209",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014209",
            "name": "neurodegeneration with optic atrophy, childhood-onset",
            "description": ""
        },
        {
            "id": "MONDO:0014209",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014209",
            "name": "spastic paraplegia 79, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:615491",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615491",
            "name": "Spastic paraplegia 79B, autosomal recessive",
            "description": "Spastic paraplegia 79B, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112344"
    ],
    "unlinked_id_list": []
}