|
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:574
|
peripheral nervous system disease
|
A nervous system disease that affects the peripheral nervous system. |
|
DOID:17
|
musculoskeletal system disease
|
A disease of anatomical entity that occurs in the muscular and/or skeletal 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:439
|
neuromuscular junction disease
|
A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction. |
|
DOID:870
|
neuropathy
|
A nervous system disease that is located_in nerves or nerve cells. |
|
DOID:440
|
neuromuscular disease
|
A neuropathy that affect the nerves that control the voluntary muscles. |
|
DOID:0080015
|
physical disorder
|
A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. |
|
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:3635
|
congenital myasthenic syndrome
|
A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic). |
|
DOID:0110671
|
congenital myasthenic syndrome 6
|
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q. |
