{
    "disease_id": "DOID:0110810",
    "recommended_name": {
        "id": "DOID:0110810",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110810",
        "name": "hereditary spastic paraplegia 5A",
        "description": "A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12."
    },
    "synonyms": [
        {
            "id": "DOID:0110810",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110810",
            "name": "SPG5A",
            "description": ""
        },
        {
            "id": "DOID:0110810",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110810",
            "name": "autosomal recessive spastic paraplegia 5A",
            "description": ""
        },
        {
            "id": "DOID:0110810",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110810",
            "name": "autosomal recessive spastic paraplegia type 5A",
            "description": ""
        },
        {
            "id": "MONDO:0010047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010047",
            "name": "hereditary spastic paraplegia 5A",
            "description": "Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients."
        },
        {
            "id": "MONDO:0010047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010047",
            "name": "spastic paraplegia 5A, autosomal recessive; SPG5A",
            "description": ""
        },
        {
            "id": "MONDO:0010047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010047",
            "name": "spastic paraplegia type 5B, recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010047",
            "name": "hereditary spastic paraplegia type 5A",
            "description": ""
        },
        {
            "id": "MONDO:0010047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010047",
            "name": "CYP7B1 pure or complex autosomal recessive spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0010047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010047",
            "name": "spastic paraplegia type 5A",
            "description": ""
        },
        {
            "id": "MONDO:0010047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010047",
            "name": "spastic paraplegia 5A, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010047",
            "name": "autosomal recessive spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0010047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010047",
            "name": "autosomal recessive spastic paraplegia type 5A",
            "description": ""
        },
        {
            "id": "MONDO:0010047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010047",
            "name": "pure or complex autosomal recessive spastic paraplegia caused by mutation in CYP7B1",
            "description": ""
        },
        {
            "id": "MONDO:0010047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010047",
            "name": "spastic paraplegia 5A",
            "description": ""
        },
        {
            "id": "MONDO:0010047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010047",
            "name": "autosomal recessive spastic paraplegia 5A",
            "description": ""
        },
        {
            "id": "MONDO:0010047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010047",
            "name": "SPG5A",
            "description": ""
        },
        {
            "id": "MIM:270800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/270800",
            "name": "Spastic paraplegia 5A, autosomal recessive",
            "description": "Spastic paraplegia 5A, autosomal recessive"
        }
    ]
}