|
DOID:0070147 - hereditary sensory neuropathy type 2C
Disease Ontology 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.
Synonyms: HSN2C, hereditary sensory neuropathy type IIC,
Xenbase Genes : kif1a
MONDO:0013634 - neuropathy, hereditary sensory, type 2C |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
hereditary sensory and autonomic neuropathy type 2 (is_a)