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spastic paraplegia-Paget disease of bone syndrome
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported.
Mondo Term and Equivalent IDs
MONDO:0018005: spastic paraplegia-Paget disease of bone syndrome
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:329475
UMLS:CN204217
MONDO:0018005
High level summary of knowledge for a disease, including descriptions and datasource references.