hereditary sensory and autonomic neuropathy type 1C

Summary

DOID:0070157 - hereditary sensory and autonomic neuropathy type 1C

Disease Ontology Definition:A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24.

Synonyms: hereditary sensory and autonomic neuropathy type IC, HSAN1C

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

: sptlc2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013337 - neuropathy, hereditary sensory and autonomic, type 1C

MONDO:0013337 - neuropathy, hereditary sensory and autonomic, type 1C

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), hereditary sensory and autonomic neuropathy type 1 (is_a)