hereditary sensory and autonomic neuropathy type 2B

Summary

DOID:0070150 - hereditary sensory and autonomic neuropathy type 2B

Disease Ontology Definition:A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the FAM134B gene on chromosome 5p15.

Synonyms: hereditary sensory and autonomic neuropathy type IIB, HSAN2B

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

: retreg1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013142 - neuropathy, hereditary sensory and autonomic, type 2B

MONDO:0013142 - neuropathy, hereditary sensory and autonomic, type 2B

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)