|
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:0050736
|
autosomal dominant disease
|
An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. |
|
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: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:0111198
|
autosomal dominant distal hereditary motor neuronopathy
|
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. |
|
DOID:0111199
|
autosomal dominant distal hereditary motor neuronopathy 7
|
An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3. |
