Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
silenced_by_histone_methylation	SO_0001222	[An attribute describing an epigenetic process where a gene is inactivated by histone methylation.]
silenced	SO_0000893	[An attribute describing an epigenetic process where a gene is inactivated at transcriptional or translational level.]
silenced_by_RNA_interference	SO_0001220	[An attribute describing an epigenetic process where a gene is inactivated by RNA interference.]
spermatogenic failure 10	DOID_0070178	[A male infertility characterized by defects in the annulus or the ring-like structure located at the distal end of the flagellar midpiece the autosomal dominant inheritance of that has_material_basis_in mutation in the SEPT12 gene on chromosome 16p13.]
spermatogenic failure 14	DOID_0070179	[An azoospermia characterized by autosomal recessive inheritance of a maturation arrest in the spermatid stage of development that has_material_basis_in mutation in the ZMYND15 gene on chromosome 17p13.]
autosomal recessive cutis laxa type III	DOID_0070143	[A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract.]
cutis laxa	DOID_3144	[A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity.]
three_prime_EST	SO_0001209	[An EST read from the 3' end of a transcript. They are more likely to fall within non-coding, or untranslated regions(UTRs).]
EST	SO_0000345	[A tag produced from a single sequencing read from a cDNA clone or PCR product; typically a few hundred base pairs long.]
autosomal recessive cutis laxa type I	DOID_0070144	[A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particulary in the lungs, vasculature, and gastrointestinal and genitourinary systems.]
five_prime_EST	SO_0001208	[An EST read from the 5' end of a transcript that usually codes for a protein. These regions tend to be conserved across species and do not change much within a gene family.]
autosomal recessive cutis laxa type II classic type	DOID_0070141	[A cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia.]
T7_RNA_Polymerase_Promoter	SO_0001207	[A region (DNA) to which the T7 RNA polymerase binds, to begin transcription.]
Phage_RNA_Polymerase_Promoter	SO_0001204	[A region (DNA) to which Bacteriophage RNA polymerase binds, to begin transcription.]
autosomal dominant cutis laxa	DOID_0070142	[A cutis laxa characterized by autosomal dominant inheritance of skin that is loose, hanging, wrinkled and lacking in elasticity.]
T3_RNA_Polymerase_Promoter	SO_0001206	[A DNA sequence to which the T3 RNA polymerase binds, to begin transcription.]
SP6_RNA_Polymerase_Promoter	SO_0001205	[A region (DNA) to which the SP6 RNA polymerase binds, to begin transcription.]
autosomal recessive cutis laxa type IIC	DOID_0070140	[An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.]
RNA_polymerase_promoter	SO_0001203	[A region (DNA) to which RNA polymerase binds, to begin transcription.]
promoter	SO_0000167	[A regulatory_region composed of the TSS(s) and binding sites for TF_complexes of the basal transcription machinery.]