| Metadata | |
|---|---|
| ID | DOID:0111200 |
| Name | distal hereditary motor neuronopathy type 1 |
| Definition | An autosomal dominant distal hereditary motor neuronopathy characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment that has_material_basis_in heterozygous mutation in locus in the 7q34-q36 chromosome region. https://www.ncbi.nlm.nih.gov/pubmed/17354000, https://www.ncbi.nlm.nih.gov/pubmed/7365507 |
| Xrefs |
UMLS_CUI:C1866784 |
| Synonyms |
autosomal dominant distal juvenile spinal muscular atrophy type 1 [EXACT] dHMN1 [EXACT] distal hereditary motor neuropathy type I [EXACT] HMN I [EXACT] spinal Charcot-Marie-Tooth disease 1 [EXACT] |
| Parent Relationships |
is_a autosomal dominant distal hereditary motor neuronopathy |