1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0081428 | autosomal recessive distal hereditary motor neuronopathy 9 | An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and atrophy, resulting in gait difficulties and that has_material_basis_in homozygous or compound heterozygous mutation in the COQ7 gene on chromosome 16p12. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:12377 | spinal muscular atrophy | A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy. |