Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
edited_transcript_by_A_to_I_substitution	SO_0000874	[A transcript that has been edited by A to I substitution.]
edited_transcript	SO_0000873	[A transcript that is edited.]
Nematoda	NCBITaxon_6231
trans_spliced_mRNA	SO_0000872	[An mRNA that is trans-spliced.]
trans_spliced_transcript	SO_0000479	[A transcript that is trans-spliced.]
primary ciliary dyskinesia 23	DOID_0110609	[A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p.]
peptic ulcer perforation	DOID_752
codon_redefined	SO_0000882	[An attribute describing the alteration of codon meaning.]
primary ciliary dyskinesia 28	DOID_0110607	[A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22.]
primary ciliary dyskinesia 19	DOID_0110608	[A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and has_material_basis_in homozygous mutation in the LRRC6 on chromosome 8q24.]
primary ciliary dyskinesia 7	DOID_0110605	[A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with chronic respiratory infections, chronic sinusitis, recurrent bronchitis, and pneumonia beginning in infancy or early childhood and has_material_basis_in mutation in the DNAH11 gene on chromosome 7p21.]
primary ciliary dyskinesia 6	DOID_0110606	[A primary ciliary dyskinesia that is characterized by partial outer dynein arm defect and has_material_basis_in mutation in the TXNDC3 gene on the chromosome 7p14.1.]
primary ciliary dyskinesia 32	DOID_0110603	[A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25.]
bladder tuberculosis	DOID_754	[An urogenital tuberculosis that is located_in urinary bladder, which results in fibrosis of bladder wall muscles.]
primary ciliary dyskinesia 18	DOID_0110604	[A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22.]
plus_2_framshift	SO_0000869	[A frameshift caused by inserting two bases.]
frameshift	SO_0000865	[An attribute describing a sequence that contains a mutation involving the deletion or insertion of one or more bases, where this number is not divisible by 3.]
active peptic ulcer disease	DOID_749
plus_1_frameshift	SO_0000868	[A frameshift caused by inserting one base.]
minus_2_frameshift	SO_0000867	[A frameshift caused by deleting two bases.]