| Term Name: | hereditary sensory neuropathy type 2C |
|---|---|
| Synonyms: | hereditary sensory neuropathy type IIC, HSN2C |
| Definition: | A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37. |
| Ontology: | Human Disease [DOID:0070147] ( DOID:0070147 ) |