12 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:0050177 | monogenic disease | A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. |
| DOID:630 | genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |
| DOID:0050735 | X-linked monogenic disease | A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. |
| DOID:0080012 | X-linked recessive disease | A X-linked monogenic disease that has_material_basis_in recessive inheritance. |
| 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:0060161 | Kennedy's disease | A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor. |
11 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0080012 | DOID:0060161 |
| is_a | DOID:12377 | DOID:0060161 |
| is_a | DOID:1289 | DOID:0060161 |
| is_a | DOID:331 | DOID:0060161 |
| is_a | DOID:231 | DOID:0060161 |
| is_a | DOID:630 | DOID:0060161 |
| is_a | DOID:0050735 | DOID:0060161 |
| is_a | DOID:863 | DOID:0060161 |
| is_a | DOID:7 | DOID:0060161 |
| is_a | DOID:4 | DOID:0060161 |
| is_a | DOID:0050177 | DOID:0060161 |
