Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
SRP_RNA_primary_transcript	SO_0000589	[A primary transcript encoding a signal recognition particle RNA.]
autosomal dominant nonsyndromic deafness 23	DOID_0110553	[An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the SIX1 gene on chromosome 14q23.]
autosomal dominant nonsyndromic deafness 24	DOID_0110554	[An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q35-qter.]
group_I_intron	SO_0000587	[Group I catalytic introns are large self-splicing ribozymes. They catalyze their own excision from mRNA, tRNA and rRNA precursors in a wide range of organisms. The core secondary structure consists of 9 paired regions (P1-P9). These fold to essentially two domains, the P4-P6 domain (formed from the stacking of P5, P4, P6 and P6a helices) and the P3-P9 domain (formed from the P8, P3, P7 and P9 helices). Group I catalytic introns often have long ORFs inserted in loop regions.]
autosomal dominant nonsyndromic deafness 21	DOID_0110551	[An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p24.1-p22.3.]
tmRNA_primary_transcript	SO_0000586	[A primary transcript encoding a tmRNA (SO:0000584).]
autosomal dominant nonsyndromic deafness 22	DOID_0110552	[An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14.]
H_ACA_box_snoRNA_primary_transcript	SO_0000596	[A primary transcript encoding a small nucleolar RNA of the box H/ACA family.]
C_D_box_snoRNA_primary_transcript	SO_0000595	[A primary transcript encoding a small nucleolar RNA of the box C/D family.]
snoRNA	SO_0000275	[A snoRNA (small nucleolar RNA) is any one of a class of small RNAs that are associated with the eukaryotic nucleus as components of small nucleolar ribonucleoproteins. They participate in the processing or modifications of many RNAs, mostly ribosomal RNAs (rRNAs) though snoRNAs are also known to target other classes of RNA, including spliceosomal RNAs, tRNAs, and mRNAs via a stretch of sequence that is complementary to a sequence in the targeted RNA.]
H_pseudoknot	SO_0000592	[A pseudoknot which contains two stems and at least two loops.]
SRP_RNA	SO_0000590	[The signal recognition particle (SRP) is a universally conserved ribonucleoprotein. It is involved in the co-translational targeting of proteins to membranes. The eukaryotic SRP consists of a 300-nucleotide 7S RNA and six proteins: SRPs 72, 68, 54, 19, 14, and 9. Archaeal SRP consists of a 7S RNA and homologues of the eukaryotic SRP19 and SRP54 proteins. In most eubacteria, the SRP consists of a 4.5S RNA and the Ffh protein (a homologue of the eukaryotic SRP54 protein). Eukaryotic and archaeal 7S RNAs have very similar secondary structures, with eight helical elements. These fold into the Alu and S domains, separated by a long linker region. Eubacterial SRP is generally a simpler structure, with the M domain of Ffh bound to a region of the 4.5S RNA that corresponds to helix 8 of the eukaryotic and archaeal SRP S domain. Some Gram-positive bacteria (e.g. Bacillus subtilis), however, have a larger SRP RNA that also has an Alu domain. The Alu domain is thought to mediate the peptide chain elongation retardation function of the SRP. The universally conserved helix which interacts with the SRP54/Ffh M domain mediates signal sequence recognition. In eukaryotes and archaea, the SRP19-helix 6 complex is thought to be involved in SRP assembly and stabilizes helix 8 for SRP54 binding.]
autosomal dominant nonsyndromic deafness 2B	DOID_0110559	[An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the fourth decade of life with by high frequency progressive hearing loss and has_material_basis_in mutation in the GJB3 gene on chromosome 1p34.3.]
obsolete physical disorder OBSOLETED TERM	DOID_0050324	[A disorder that has an available objective mechanical test (such as chemical tests or brain scans), and are diagnosed only by behavioral syndrome (such as those in the Diagnostic and Statistical Manual of Mental Disorders (DSM).]
obsolete primary Coxiellaceae infectious disease	DOID_0050323
obsolete genetic disorder	DOID_0050325	[A medical disorder that is an illness caused by abnormalities in genes or chromosomes.]
benign eccrine breast spiradenoma	DOID_1616	[A breast benign neoplasm that arises_from cutaneous sweat glands and is characterized microscopically by two-cell populations: small, dark, basaloid cells with hyperchromatic nuclei, which are immunoreactive for P63 and calponin, and larger cells with a pale nucleus, often near the center of the cluster (inner cells), which are immunoreactive for CK7 and CD117 (C-kit).]
obsolete peripheral dysostosis	DOID_0050327
bronchiolitis	DOID_2942	[A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen.]
bronchus	UBERON_0002185