- vulvar trichoepithelioma [DOID:2080]
A vulvar benign neoplasm that derives_from epithelial-mesenchymal origin cells. It is characterized by branching nests of basaloid cells, horn cysts, and abortive hair papillae. The tumors represent benign hamartomas of the pilosebaceous apparatus.
- X-linked spinal muscular atrophy 2 [DOID:0111827]
A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in the UBA1 gene on chromosome Xp11.3.
- autosomal dominant distal hereditary motor neuronopathy [DOID:0111198]
A spinal muscular atrophy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration, and that has_material_basis_in autosomal dominant inheritance.
- anterior horn cell disease [DOID:4873]
A motor neuron disease that is characterized by lower motor neuron signs of wasting, weakness, and loss of reflexes and that is located in the anterior horn of the spinal cord that contains the motor neurons responsible for body muscles.
- autosomal dominant distal hereditary motor neuronopathy 1 [DOID:0111200]
An autosomal dominant distal hereditary motor neuronopathy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration and that has_material_basis_in heterozygous 1.35-Mb DNA insertion on chromosome 7q34-q36.2. This structural variant (SV) results in the production of a novel gene-intergenic fusion transcript, UBE3C-IF.