| Metadata | |
|---|---|
| ID | DOID:0111206 |
| Name | autosomal dominant distal hereditary motor neuronopathy 2 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/15122253, https://pubmed.ncbi.nlm.nih.gov/15358725/, https://www.ncbi.nlm.nih.gov/pubmed/1517763 |
| Xrefs | |
| Alternateids |
DOID:0111208 |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant adult spinal muscular atrophy IIA [EXACT] distal hereditary motor neuronopathy type 2 [EXACT] distal hereditary motor neuronopathy type 2A [EXACT] distal hereditary motor neuropathy type II [EXACT] distal hereditary motor neuropathy type IIA [EXACT] HMN II [EXACT] HMN IIA [EXACT] HMN2 [EXACT] HMN2A [EXACT] spinal Charcot-Marie-Tooth disease IIA [EXACT] |
| Parent Relationships |
is_a autosomal dominant distal hereditary motor neuronopathy |
| Subclass Logical Relationships |
existence starts during some Young adult onset has symptom some muscle weakness |