autosomal dominant distal hereditary motor neuronopathy 3

Term ID

DOID:0111207

Synonyms

• distal hereditary motor neuronopathy type 2B
• distal hereditary motor neuropathy type IIB
• HMN IIB
• HMN2B

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. https://www.ncbi.nlm.nih.gov/pubmed/18832141

References

• OMIM:608634

Ontology

Human Disease   ( DOID:0111207 )