9 Parents
| Identifier | Name | Description |
|---|---|---|
| DOID:7 | disease of anatomical entity | A disease that manifests in a defined anatomical structure. |
| DOID:4 | disease | A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. |
| DOID:863 | nervous system disease | A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. |
| DOID:331 | central nervous system disease | A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system. |
| 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. |
| DOID:231 | motor neuron disease | A neurodegenerative disease that is located_in the motor neurons. |
| DOID:1289 | neurodegenerative disease | A central nervous system disease that results in the progressive deterioration of function or structure of neurons. |
| DOID:0060160 | childhood spinal muscular atrophy | A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood and that has_material_basis_in variation in the SMN gene. |
| DOID:13137 | Werdnig-Hoffmann disease | A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13. |
8 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0060160 | DOID:13137 |
| is_a | DOID:4 | DOID:13137 |
| is_a | DOID:863 | DOID:13137 |
| is_a | DOID:12377 | DOID:13137 |
| is_a | DOID:1289 | DOID:13137 |
| is_a | DOID:231 | DOID:13137 |
| is_a | DOID:331 | DOID:13137 |
| is_a | DOID:7 | DOID:13137 |
