hereditary sensory neuropathy type 2C

Summary

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: hereditary sensory neuropathy type IIC, HSN2C

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: kif1a

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013634 - neuropathy, hereditary sensory, type 2C

MONDO:0013634 - neuropathy, hereditary sensory, type 2C

MIM:

MIM:614213 - NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C

MIM:614213 - NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C

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)