|
DOID:0111207 - autosomal dominant distal hereditary motor neuronopathy 3
Disease Ontology Definition:An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1) on chromosome 7q11.23.
Synonyms: distal hereditary motor neuronopathy type 2B, distal hereditary motor neuropathy type IIB, HMN2B, HMN IIB
Xenbase Genes
:
hspb1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant distal hereditary motor neuronopathy 2 (is_a),
autosomal dominant distal hereditary motor neuronopathy (is_a)