{
    "disease_id": "DOID:0110777",
    "recommended_name": {
        "id": "DOID:0110777",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110777",
        "name": "hereditary spastic paraplegia 26",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110777",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110777",
            "name": "GM2 synthase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110777",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110777",
            "name": "SPG26",
            "description": ""
        },
        {
            "id": "DOID:0110777",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110777",
            "name": "autosomal recessive spastic paraplegia 26",
            "description": ""
        },
        {
            "id": "DOID:0110777",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110777",
            "name": "autosomal recessive spastic paraplegia type 26",
            "description": ""
        },
        {
            "id": "MONDO:0012213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012213",
            "name": "hereditary spastic paraplegia 26",
            "description": "A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1."
        },
        {
            "id": "MONDO:0012213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012213",
            "name": "GM2 synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012213",
            "name": "SPG26",
            "description": ""
        },
        {
            "id": "MONDO:0012213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012213",
            "name": "autosomal recessive spastic paraplegia type 26",
            "description": ""
        },
        {
            "id": "MONDO:0012213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012213",
            "name": "hereditary spastic paraplegia type 26",
            "description": ""
        },
        {
            "id": "MONDO:0012213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012213",
            "name": "spastic paraplegia 26",
            "description": ""
        },
        {
            "id": "MONDO:0012213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012213",
            "name": "spastic paraplegia 26, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:609195",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609195",
            "name": "Spastic paraplegia 26, autosomal recessive",
            "description": "Spastic paraplegia 26, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110777"
    ],
    "unlinked_id_list": []
}