13 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:0050739 | autosomal genetic disease | A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. |
| DOID:0050737 | autosomal recessive disease | An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. |
| 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:0111197 | autosomal recessive distal hereditary motor neuronopathy | A spinal muscular atrophy that has_material_basis_in autosomal recessive inheritance. |
| 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. |
12 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0111197 | DOID:0081428 |
| is_a | DOID:0050737 | DOID:0081428 |
| is_a | DOID:0050739 | DOID:0081428 |
| is_a | DOID:1289 | DOID:0081428 |
| is_a | DOID:7 | DOID:0081428 |
| is_a | DOID:12377 | DOID:0081428 |
| is_a | DOID:0050177 | DOID:0081428 |
| is_a | DOID:863 | DOID:0081428 |
| is_a | DOID:630 | DOID:0081428 |
| is_a | DOID:231 | DOID:0081428 |
| is_a | DOID:4 | DOID:0081428 |
| is_a | DOID:331 | DOID:0081428 |
