hereditary sensory neuropathy type 1E

Summary

DOID:0070158 - hereditary sensory neuropathy type 1E

Disease Ontology Definition:A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the DNMT1 gene on chromosome 19p13.

Synonyms: hereditary sensory neuropathy type IE, HSN1E

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

: dnmt1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013584 - metapodium bone 4

MONDO:0013584 - metapodium bone 4

MIM:

MIM:614116 - NEUROPATHY, HEREDITARY SENSORY, TYPE IE; HSN1E

MIM:614116 - NEUROPATHY, HEREDITARY SENSORY, TYPE IE; HSN1E

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 neuropathy (is_a)