Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
spastic ataxia 2	DOID_0050941	[A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, has_material_basis_in homozygous mutation in the KIF1C gene on chromosome 17p13.]
spastic ataxia 5	DOID_0050944	[A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has_material_basis_in homozygous mutation in the AFG3L2 gene on chromosome 18p11.]
spastic ataxia 4	DOID_0050943	[A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has_material_basis_in homozygous mutation in the MTPAP gene on chromosome 10p11.]
Charlevoix-Saguenay spastic ataxia	DOID_0050946	[An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12.]
spastic ataxia 7	DOID_0050945	[A spastic ataxia that is characterized by poor visual acuity, cerebellar ataxia, dysarthria and pyramidal signs.]
spinocerebellar ataxia type 20	DOID_0050971	[An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria.]
spinocerebellar ataxia type 19/22	DOID_0050970	[An autosomal dominant cerebellar ataxia that is characterized by mild cerebellar ataxia, cognitive impairment, myoclonus and tremor.]
anterior cranial fossa	UBERON_0003720
Diptera	NCBITaxon_7147
middle cranial fossa	UBERON_0003722
inorganic molecular entity	CHEBI_24835	[A molecular entity that contains no carbon.]
complex_3D_structural_variant	SO_0001600	[A sequence variant that changes the resulting polypeptide structure.]
conformational_change_variant	SO_0001601	[A sequence variant in the CDS region that causes a conformational change in the resulting polypeptide sequence.]
complex_change_of_translational_product_variant	SO_0001602
amino_acid_deletion	SO_0001604	[A sequence variant within a CDS resulting in the loss of an amino acid from the resulting polypeptide.]
amino_acid_insertion	SO_0001605	[A sequence variant within a CDS resulting in the gain of an amino acid to the resulting polypeptide.]
spinocerebellar ataxia type 23	DOID_0050973	[An autosomal dominnant cerebellar ataxia that is characterized by slowly progressive ataxia, dysarthria, slow saccades and hyperreflexia, has_material_basis_in mutation in the PDYN gene.]
amino_acid_substitution	SO_0001606	[A sequence variant of a codon resulting in the substitution of one amino acid for another in the resulting polypeptide.]
spinocerebellar ataxia type 21	DOID_0050972	[An autosomal dominant cerebellar ataxia that is characterized by progressive cerebellar ataxia, cognitive impairment, tremor, bradykinesia and rigidity.]
conservative_amino_acid_substitution	SO_0001607	[A sequence variant of a codon causing the substitution of a similar amino acid for another in the resulting polypeptide.]