| Metadata | |
|---|---|
| ID | DOID:0111203 |
| Name | autosomal dominant distal hereditary motor neuronopathy 5 |
| Definition | An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14. https://www.ncbi.nlm.nih.gov/pubmed/12690580, https://www.ncbi.nlm.nih.gov/pubmed/22703882 |
| Xrefs |
SNOMEDCT_US_2023_03_01:1197152005 |
| Alternateids |
DOID:0111204 |
| Subsets |
DO_rare_slim |
| Synonyms |
DHMN5 [EXACT] distal hereditary motor neuronopathy type 5 [EXACT] distal hereditary motor neuronopathy type 5A [EXACT] distal hereditary motor neuropathy type V [EXACT] distal HMN V [EXACT] distal HMN VA [EXACT] distal spinal muscular atrophy type V [EXACT] distal spinal muscular atrophy type VA [EXACT] distal spinal muscular atrophy with upper limb predominance [EXACT] DSMAV [EXACT] HMN5 [EXACT] |
| Parent Relationships |
is_a autosomal dominant distal hereditary motor neuronopathy |