OBO ID: DOID:0070147
Term Name: hereditary sensory neuropathy type 2C Search Ontology:
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:
Ontology: Human Disease   (DOID:0070147)
OTHER hereditary sensory neuropathy type 2C PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KIF1A Neuropathy, hereditary sensory, type IIC 614213
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None