Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
glutaminyl_tRNA	SO_0000259	[A tRNA sequence that has a glutamine anticodon, and a 3' glutamine binding region.]
plus_2_frameshift_variant	SO_0001595
cysteinyl_tRNA	SO_0000258	[A tRNA sequence that has a cysteine anticodon, and a 3' cysteine binding region.]
transcript_secondary_structure_variant	SO_0001596	[A sequence variant within a transcript that changes the secondary structure of the RNA product.]
aspartyl_tRNA	SO_0000257	[A tRNA sequence that has an aspartic acid anticodon, and a 3' aspartic acid binding region.]
compensatory_transcript_secondary_structure_variant	SO_0001597	[A secondary structure variant that compensate for the change made by a previous variant.]
asparaginyl_tRNA	SO_0000256	[A tRNA sequence that has an asparagine anticodon, and a 3' asparagine binding region.]
methionyl_tRNA	SO_0000266	[A tRNA sequence that has a methionine anticodon, and a 3' methionine binding region.]
stop_gained	SO_0001587	[A sequence variant whereby at least one base of a codon is changed, resulting in a premature stop codon, leading to a shortened polypeptide.]
lysyl_tRNA	SO_0000265	[A tRNA sequence that has a lysine anticodon, and a 3' lysine binding region.]
leucyl_tRNA	SO_0000264	[A tRNA sequence that has a leucine anticodon, and a 3' leucine binding region.]
isoleucyl_tRNA	SO_0000263	[A tRNA sequence that has an isoleucine anticodon, and a 3' isoleucine binding region.]
histidyl_tRNA	SO_0000262	[A tRNA sequence that has a histidine anticodon, and a 3' histidine binding region.]
glycyl_tRNA	SO_0000261	[A tRNA sequence that has a glycine anticodon, and a 3' glycine binding region.]
glutamyl_tRNA	SO_0000260	[A tRNA sequence that has a glutamic acid anticodon, and a 3' glutamic acid binding region.]
Birt-Hogg-Dube syndrome	DOID_0050676	[A skin disease that is characterized by the development of skin papules on the head, face and upper torso, has_material_basis_in heterozygous mutation in the gene encoding folliculin on chromosome 17p11.]
Birk-Barel syndrome	DOID_0050675	[A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24.]
Blau syndrome	DOID_0050678	[A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene.]
Bjornstad syndrome	DOID_0050677	[A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35.]
blue cone monochromacy	DOID_0050679	[An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance.]