Term Name: | hereditary sensory neuropathy type 2C |
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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 ) |