Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
obsolete leptomeningeal neoplasm	DOID_4956
childhood spinal cord tumor	DOID_3637
Gerstmann syndrome	DOID_4969	[A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia.]
Nelson syndrome	DOID_4968
adrenal cortex disease	DOID_3952
spinal cord intramedullary teratoma	DOID_3639
susceptibility to familial breast-ovarian cancer 3	OMIM_613399
Renal insufficiency	HP_0000083	[A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.]
Abnormal renal physiology	HP_0012211	[An abnormal functionality of the kidney.]
pyrrolysine_loss	SO_0002010	[A sequence variant whereby at least one base of a codon encoding pyrrolysine is changed, resulting in a different encoded amino acid.]
rare_amino_acid_variant	SO_0002008	[A sequence variant whereby at least one base of a codon encoding a rare amino acid is changed, resulting in a different encoded amino acid.]
intragenic_variant	SO_0002011	[A variant that occurs within a gene but falls outside of all transcript features. This occurs when alternate transcripts of a gene do not share overlapping sequence.]
start_lost	SO_0002012	[A codon variant that changes at least one base of the canonical start codon.]
nonsynonymous_variant	SO_0001992	[A non-synonymous variant is an inframe, protein altering variant, resulting in a codon change.]
5_prime_UTR_truncation	SO_0002013	[A sequence variant that causes the reduction of a the 5'UTR with regard to the reference sequence.]
5_prime_UTR_elongation	SO_0002014	[A sequence variant that causes the extension of 5' UTR, with regard to the reference sequence.]
3_prime_UTR_truncation	SO_0002015	[A sequence variant that causes the reduction of a the 3' UTR with regard to the reference sequence.]
DSR_motif	SO_0002005	[The determinant of selective removal (DSR) motif consists of repeats of U(U/C)AAAC. The motif targets meiotic transcripts for removal during mitosis via the exosome.]
zinc_repressed_element	SO_0002006	[A promoter element that has the consensus sequence GNMGATC, and is found in promoters of genes repressed in the presence of zinc.]
substitution	SO_1000002	[A sequence alteration where the length of the change in the variant is the same as that of the reference.]