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:12376 | juvenile spinal muscular atrophy | A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 gene on chromosome 5q13. |
8 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0060160 | DOID:12376 |
| is_a | DOID:12377 | DOID:12376 |
| is_a | DOID:4 | DOID:12376 |
| is_a | DOID:231 | DOID:12376 |
| is_a | DOID:331 | DOID:12376 |
| is_a | DOID:7 | DOID:12376 |
| is_a | DOID:1289 | DOID:12376 |
| is_a | DOID:863 | DOID:12376 |
