Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
wybutosine	SO_0001332	[Wybutosine is a modified guanosine base feature.]
APP-related cerebral amyloid angiopathy	DOID_0070028	[A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3.]
cerebral amyloid angiopathy	DOID_9246	[An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia.]
two_prime_O_ribosylguanosine_phosphate	SO_0001331	[2prime_O_ribosylguanosine_phosphate is a modified guanosine base feature.]
ITM2B-related cerebral amyloid angiopathy 1	DOID_0070029	[A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.]
N2_N2_2_prime_O_trimethylguanosine	SO_0001330	[N2_N2_2prime_O_trimethylguanosine is a modified guanosine base feature.]
Revesz syndrome	DOID_0070026	[A dyskeratosis congenita that has_material_basis_in a mutation of TINF2 on chromosome 14q12.]
CST3-related cerebral amyloid angiopathy	DOID_0070027	[A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of CST3 on chromosome 20p11.21.]
autosomal recessive dyskeratosis congenita 6	DOID_0070024	[A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of PARN on chromosome 16p13.12.]
X-linked dyskeratosis congenita	DOID_0070025	[A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of DKC1 on chromosome Xq28.]
aztreonam	CHEBI_161680	[A synthetic monocyclic beta-lactam antibiotic (monobactam), used primarily to treat infections caused by Gram-negative bacteria. It inhibits mucopeptide synthesis in the bacterial cell wall, thereby blocking peptidoglycan crosslinking.]
monobactam	CHEBI_50695	[Monocyclic, bacterially produced or semisynthetic beta-lactam antibiotic. It lacks the double ring construction of the traditional beta-lactam antibiotics and can be easily synthesized.]
autosomal dominant non-syndromic intellectual disability 3	DOID_0070033	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of CDH15 on chromosome 16q24.3.]
galactosyl_queuosine	SO_0001319	[Galactosyl_queuosine is a modified 7-deazoguanosine.]
autosomal dominant non-syndromic intellectual disability 4	DOID_0070034	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of KIRREL3 on chromosome 11q24.2.]
epoxyqueuosine	SO_0001318	[Epoxyqueuosine is a modified 7-deazoguanosine.]
autosomal dominant non-syndromic intellectual disability 1	DOID_0070031	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of MBD5 on chromosome 2q23.1.]
queuosine	SO_0001317	[Queuosine is a modified 7-deazoguanosine.]
autosomal dominant non-syndromic intellectual disability 2	DOID_0070032	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of DOCK8 on chromosome 9p24.]
N6_acetyladenosine	SO_0001315	[N6_acetyladenosine is a modified adenosine.]