| Metadata | |
|---|---|
| ID | DOID:0111207 |
| Name | autosomal dominant distal hereditary motor neuronopathy 3 |
| 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 |
| Xrefs | |
| Synonyms |
distal hereditary motor neuronopathy type 2B [EXACT] distal hereditary motor neuropathy type IIB [EXACT] HMN IIB [EXACT] HMN2B [EXACT] |
| Parent Relationships |
is_a autosomal dominant distal hereditary motor neuronopathy |