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Metadata
ID DOID:0070147
Name hereditary sensory neuropathy type 2C
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.
https://www.ncbi.nlm.nih.gov/pubmed/21820098
Xrefs

OMIM:614213

Synonyms

hereditary sensory neuropathy type IIC [EXACT]

HSN2C [EXACT]

Parent Relationships

is_a hereditary sensory and autonomic neuropathy type 2

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