Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
terminal_inverted_repeat	SO_0000481	[An inverted repeat (SO:0000294) occurring at the termini of a DNA transposon.]
primary pigmented nodular adrenocortical disease	DOID_0060280	[An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules.]
U3_three_prime_LTR_region	SO_0000431
SL7_acceptor_site	SO_0001752	[A SL2_acceptor_site which appends the SL7 RNA leader sequence to the 5' end of an mRNA. SL7 acceptor sites occur in genes in internal segments of polycistronic transcripts.]
R_three_prime_LTR_region	SO_0000430
SL8_acceptor_site	SO_0001753	[A SL2_acceptor_site which appends the SL8 RNA leader sequence to the 5' end of an mRNA. SL8 acceptor sites occur in genes in internal segments of polycistronic transcripts.]
SL9_acceptor_site	SO_0001754	[A SL2_acceptor_site which appends the SL9 RNA leader sequence to the 5' end of an mRNA. SL9 acceptor sites occur in genes in internal segments of polycistronic transcripts.]
SL10_acceptor_site	SO_0001755	[A SL2_acceptor_site which appends the SL10 RNA leader sequence to the 5' end of an mRNA. SL10 acceptor sites occur in genes in internal segments of polycistronic transcripts.]
SL11_acceptor_site	SO_0001756	[A SL2_acceptor_site which appends the SL11 RNA leader sequence to the 5' end of an mRNA. SL11 acceptor sites occur in genes in internal segments of polycistronic transcripts.]
SL12_acceptor_site	SO_0001757	[A SL2_acceptor_site which appends the SL12 RNA leader sequence to the 5' end of an mRNA. SL12 acceptor sites occur in genes in internal segments of polycistronic transcripts.]
duplicated_pseudogene	SO_0001758	[A pseudogene that arose via gene duplication. Generally duplicated pseudogenes have the same structure as the original gene, including intron-exon structure and some regulatory sequence.]
omodysplasia	DOID_0060288	[An osteochondrodysplasia that is characterized by severe congenital shortening and distal tapering of the humeri and femori as well as cryptorchidism, congential heart defects, cognitive delay and dysmorphic facies, has_material_basis_in autosomal recessive inheritance of mutation in the GPC6 gene.]
cornea plana	DOID_0060287	[A corneal disease that is characterized by a flat cornea where the radus of curvature is less than 43 D.]
parietal foramina	DOID_0060285	[An inherited neural tube defect that is characterized by enlarged openings in the parietal bones of the skull, has_material_basis_in mutation in the ALX4 gene or MSX2 gene.]
paroxysmal nocturnal hemoglobinuria	DOID_0060284	[An aquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system.]
peeling skin syndrome	DOID_0060283	[A skin disease that is characterized by the painless peeling of the top layer of skin predominately on the hands and feet, has_material_basis_in autosomal recessive inheritance of mutation in the TGM5 gene and/pr CSTA gene.]
persistent hyperplastic primary vitreous	DOID_0060282	[A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development.]
photosensitive epilepsy	DOID_0060281	[An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights.]
obsolete malignant lymphatic vessel tumor	DOID_1744
Van der Woude syndrome	DOID_0060239	[A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone.]