1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0081400 | autosomal dominant distal hereditary motor neuronopathy 11 | An autosomal dominant distal hereditary motor neuronopathy that is characterized by juvenile or young-adult onset of distal limb muscle weakness and atrophy mainly affecting the lower limbs, resulting in gait instability and walking difficulties and that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:1289 | neurodegenerative disease | A central nervous system disease that results in the progressive deterioration of function or structure of neurons. |