{
    "disease_id": "DOID:0110797",
    "recommended_name": {
        "id": "DOID:0110797",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110797",
        "name": "hereditary spastic paraplegia 45",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the NT5C2 gene on chromosome 10q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110797",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110797",
            "name": "SPG45",
            "description": ""
        },
        {
            "id": "DOID:0110797",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110797",
            "name": "SPG65",
            "description": ""
        },
        {
            "id": "DOID:0110797",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110797",
            "name": "autosomal recessive spastic paraplegia 45",
            "description": ""
        },
        {
            "id": "DOID:0110797",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110797",
            "name": "autosomal recessive spastic paraplegia type 45",
            "description": ""
        },
        {
            "id": "DOID:0110797",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110797",
            "name": "autosomal recessive spastic paraplegia type 65",
            "description": ""
        },
        {
            "id": "MONDO:0013165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013165",
            "name": "hereditary spastic paraplegia 45",
            "description": "Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported."
        },
        {
            "id": "MONDO:0013165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013165",
            "name": "SPG45",
            "description": ""
        },
        {
            "id": "MONDO:0013165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013165",
            "name": "NT5C2 autosomal recessive complex spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0013165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013165",
            "name": "spastic paraplegia 45, autosomal recessive; SPG45",
            "description": ""
        },
        {
            "id": "MONDO:0013165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013165",
            "name": "SPG65",
            "description": ""
        },
        {
            "id": "MONDO:0013165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013165",
            "name": "autosomal recessive spastic paraplegia type 45",
            "description": ""
        },
        {
            "id": "MONDO:0013165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013165",
            "name": "autosomal recessive complex spastic paraplegia caused by mutation in NT5C2",
            "description": ""
        },
        {
            "id": "MONDO:0013165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013165",
            "name": "spastic paraplegia 45, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0013165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013165",
            "name": "autosomal recessive spastic paraplegia 45",
            "description": ""
        },
        {
            "id": "MONDO:0013165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013165",
            "name": "hereditary spastic paraplegia type 45",
            "description": ""
        },
        {
            "id": "MONDO:0013165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013165",
            "name": "autosomal recessive spastic paraplegia type 65",
            "description": ""
        },
        {
            "id": "MIM:613162",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613162",
            "name": "Spastic paraplegia 45, autosomal recessive",
            "description": "Spastic paraplegia 45, autosomal recessive"
        }
    ]
}