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neuronopathy, distal hereditary motor, type 2D
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene.
Uniprot Description A disorder characterized by onset of slowly progressive distal lower limb weakness and atrophy between the second and fourth decades of life. Weakness usually begins in the calf muscles and later involves more proximal muscles. The severity is variable, and some patients have difficulty walking or running. Most also have upper limb involvement, particularly of the triceps and intrinsic hand muscles. Some patients may lose independent ambulation later in the disease course. Sensory impairment is typically not present, and cognition and bulbar function are normal.
Mondo Term and Equivalent IDs
MONDO:0014259: neuronopathy, distal hereditary motor, type 2D
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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.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111210
OMIM:615575
MONDO:0014259
High level summary of knowledge for a disease, including descriptions and datasource references.