hereditary sensory neuropathy type 1D

Summary

DOID:0070156 - hereditary sensory neuropathy type 1D

Disease Ontology Definition:A hereditary sensory and autonomic neuropathy type 1 characterized dult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement that has_material_basis_in heterozygous mutation in the ATL1 gene on chromosome 14q.

Synonyms: HSN1D

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

: atl1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013381 - neuropathy, hereditary sensory, type 1D

MONDO:0013381 - neuropathy, hereditary sensory, type 1D

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)