Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
non_conservative_missense_variant	SO_0001586	[A sequence variant whereby at least one base of a codon is changed resulting in a codon that encodes for an amino acid with different biochemical properties.]
selenocysteine_loss	SO_0002009	[A sequence variant whereby at least one base of a codon encoding selenocysteine is changed, resulting in a different encoded amino acid.]
bone marrow disease	DOID_4961
Arenaviridae	NCBITaxon_11617
Bunyavirales	NCBITaxon_1980410
spondylolysis	DOID_2300	[A bone structure disease that involves a defect located_in lumbar vertebral column.]
bone structure disease	DOID_0080010	[A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure.]
pericardial tuberculosis	DOID_4962	[An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction.]
pericardium disease	DOID_0050829	[A cardiovascular system disease that is located_in the fibrous sac surrounding the heart.]
extrapulmonary tuberculosis	DOID_0050598	[A tuberculosis that occurs at body sites other than the lung.]
pericardium	UBERON_0002407
Pericardial constriction	HP_0005132	[Compression of the heart caused by rigid, thickened, or fused pericardial membranes.]
pericardial effusion	SYMP_0000876	[Pericardial effusion is a cardiovascular system symptom where there is an abnormal accumulation of fluid in the pericardial cavity.]
atrophy of prostate	DOID_2301
beta-mannosidosis	DOID_3633	[A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism.]
neurotic disorder	DOID_4964	[An anxiety disorder that involves discress but neither delusions nor hallucinations.]
stereotypic movement disorder	DOID_2303	[A specific developmental disorder that is characterized by repeated, rhythmic, purposeless movements or activities such as head banging, nail biting, or body rocking.]
congenital myasthenic syndrome	DOID_3635	[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).]
neuromuscular junction disease	DOID_439	[A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction.]
obsolete adrenal hyperplasia	DOID_4967