hereditary sensory neuropathy type 2C

Term ID

DOID:0070147

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. https://www.ncbi.nlm.nih.gov/pubmed/21820098

References

OMIM:614213

Ontology

Human Disease ( DOID:0070147 )

Relationships

is a type of: autosomal recessive disease hereditary sensory and autonomic neuropathy type 2

autosomal recessive disease hereditary sensory and autonomic neuropathy type 2 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations