autosomal dominant distal hereditary motor neuronopathy 2

Summary

DOID:0111206 - autosomal dominant distal hereditary motor neuronopathy 2

Disease Ontology Definition:An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy with onset between 15 to 25 years of age and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24.

Synonyms: HMN II, HMN2, distal hereditary motor neuropathy type II, autosomal dominant adult spinal muscular atrophy IIA, HMN IIA, HMN2A, distal hereditary motor neuronopathy type 2, distal hereditary motor neuronopathy type 2A, distal hereditary motor neuropathy type IIA, spinal Charcot-Marie-Tooth disease IIA

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

: hspb1, hspb8

MIM:

MIM:158590 - NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 2; HMND2

MIM:158590 - NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 2; HMND2

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

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

Parent(s): autosomal dominant distal hereditary motor neuronopathy (is_a)