Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
spinocerebellar ataxia type 26	DOID_0050975	[An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and oculomotor abnormalities, has_material_basis_in mutation in the EEF2 gene.]
non_conservative_amino_acid_substitution	SO_0001608	[A sequence variant of a codon causing the substitution of a non conservative amino acid for another in the resulting polypeptide.]
spinocerebellar ataxia type 25	DOID_0050974	[An autosomal dominant cerebellar ataxia that is characterized by ataxia and sensory neuropathy, has_material_basis_in repeat CAG expansion on chromosome 2p15-p21.]
spinocerebellar ataxia type 28	DOID_0050977	[An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene.]
spinocerebellar ataxia type 27	DOID_0050976	[An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia, early-onset tremor and dyskinesia, and has_material_basis_in mutation in the FGF14 gene.]
spinocerebellar ataxia type 30	DOID_0050979	[An autosomal dominant cerebellar ataxia that is characterized by slowly progressive gait abnormalities and dysarthria, has_material_basis_in mutation in the ODZ3 gene.]
spinocerebellar ataxia type 29	DOID_0050978	[An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has_material_basis_in mutation in the ITPR1 gene.]
spinocerebellar ataxia type 10	DOID_0050960	[An autosomal dominant cerebellar ataxia that is characterized by gait ataxia, upper-limb ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the ATXN10 gene.]
pleural cavity	UBERON_0002402
spinocerebellar ataxia type 18	DOID_0050969	[An autosomal dominant cerebellar ataxia that is characterized by cerebellar ataxia and sensory neuropathy, has_material_basis_in mutation on chromosome 7q22-q23.]
spinocerebellar ataxia type 12	DOID_0050962	[An autosomal dominant cerebellar ataxia that is characterized by minor ataxia and intention tremor, has_material_basis_in CAG expansion of the PPP2R2B gene.]
spinocerebellar ataxia type 11	DOID_0050961	[An autosomal dominant cerebellar ataxia that is characterized by ataxia, nystagmus, pyramidal abonormalities and peripheral neuropathy, has_material_basis_in mutation in the TTBK2 gene.]
spinocerebellar ataxia type 14	DOID_0050964	[An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the PRKCG gene.]
spinocerebellar ataxia type 13	DOID_0050963	[An autosomal dominant cerebellar ataxia that is characterized by developmental delay, ataxia, myoclinic jerks, dysarthria, dysphagia and seizure, and has_material_basis_in mutation in the KCNC3 gene.]
obsolete spinocerebellar ataxia type 16	DOID_0050966	[An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia, dysarthria, nystagmus, peripheral neuropathy and limb spasticity, has_material_basis_in mutation in the STUB1 gene.]
spinocerebellar ataxia type 15	DOID_0050965	[An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, nystagmus, dysarthria and dysphagia, has_material_basis_in mutation in the ITPR1 gene.]
autosomal dominant cerebellar ataxia, deafness and narcolepsy	DOID_0050968	[An autosomal dominant cerebellar ataxia that is characterized by ataxia, sensorineal deafness, narcolepsy with cataplexy, and dementia, has_material_basis_in mutation in the DNMT1 gene.]
spinocerebellar ataxia type 17	DOID_0050967	[An autosomal dominant cerebellar ataxia that is characterized by chorea, dementia, dystonia, spasiticity and seizure, has_material_basis_in CAG repeat expansion in the TBP gene.]
inorganic ion	CHEBI_36914
long bone	UBERON_0002495