Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
two_thio_two_prime_O_methyluridine	SO_0001352	[2_thio_2prime_O_methyluridine is a modified uridine base feature.]
autosomal dominant non-syndromic intellectual disability 18	DOID_0070048	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3.]
five_methyl_2_thiouridine	SO_0001351	[5_methyl_2_thiouridine is a modified uridine base feature.]
autosomal dominant non-syndromic intellectual disability 19	DOID_0070049	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of CTNNB1 on chromosome 3p22.1.]
four_thiouridine	SO_0001350	[4_thiouridine is a modified uridine base feature.]
Coffin-Siris syndrome 4	DOID_0070046	[A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of SMARCA4 on chromosome 19p13.2.]
Schuurs-Hoeijmakers Syndrome	DOID_0070047	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of PACS1 on chromosome 11q13.1-q13.2.]
Xia-Gibbs Syndrome	DOID_0070055	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of AHDC1 on chromosome 1p36.1-p35.3.]
autosomal dominant non-syndromic intellectual disability 26	DOID_0070056	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of AUTS2 on chromosome 7q11.22.]
autosomal dominant non-syndromic intellectual disability 23	DOID_0070053	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of SETD5 on chromosome 3p25.3.]
N2_N2_7_trimethylguanosine	SO_0001339	[N2_N2_7_trimethylguanosine is a modified guanosine base feature.]
autosomal dominant non-syndromic intellectual disability 24	DOID_0070054	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of DEAF1 on chromosome 11p15.5.]
N2_7_dimethylguanosine	SO_0001338	[N2_7_dimethylguanosine is a modified guanosine base feature.]
read_pair	SO_0000007	[One of a pair of sequencing reads in which the two members of the pair are related by originating at either end of a clone insert.]
read	SO_0000150	[A sequence obtained from a single sequencing experiment. Typically a read is produced when a base calling program interprets information from a chromatogram trace file produced from a sequencing machine.]
autosomal dominant non-syndromic intellectual disability 21	DOID_0070051	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of CTCF on chromosome 16q22.1.]
methylwyosine	SO_0001337	[Methylwyosine is a modified guanosine base feature.]
PCR_product	SO_0000006	[A region amplified by a PCR reaction.]
reagent	SO_0000695	[A sequence used in experiment.]
autosomal dominant non-syndromic intellectual disability 22	DOID_0070052	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of ZBTB18 on chromosome 1q44.]