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giant axonal neuropathy
Disease Summary
Associated Targets (2)
Tbio
2
Mondo Description A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs.
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.
DC:0000525
MESH:D056768
NCIT:C84728
OMIMPS:256850
SCTID:128207002
UMLS:C1850386
MONDO:0000128
High level summary of knowledge for a disease, including descriptions and datasource references.