Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
amyotrophic lateral sclerosis type 18	DOID_0060209	[An amyotrophic lateral sclerosis that has_material_basis_in mutation in the PFN1 gene on chromosome 17.]
IMAGe syndrome	DOID_0050885	[A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_material_basis_in heterozygous mutation in the CDKN1C gene.]
amyotrophic lateral sclerosis type 9	DOID_0060200	[An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ANG gene on chromosome 14.]
triosephosphate isomerase deficiency	DOID_0050884	[A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait.]
Townes-Brocks syndrome	DOID_0050887	[A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations.]
Troyer syndrome	DOID_0050886	[A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene.]
polypeptide_domain	SO_0000417	[A structurally or functionally defined protein region. In proteins with multiple domains, the combination of the domains determines the function of the protein. A region which has been shown to recur throughout evolution.]
invalidated_by_partial_processing	SO_0000416	[An attribute to describe a feature that is invalidated due to partial processing.]
invalidated_by_genomic_polyA_primed_cDNA	SO_0000415	[An attribute to describe a feature that is invalidated due to polyA priming.]
invalidated_by_genomic_contamination	SO_0000414	[An attribute to describe a feature that is invalidated due to genomic contamination.]
SL5_acceptor_site	SO_0001750	[A SL2_acceptor_site which appends the SL5 RNA leader sequence to the 5' end of an mRNA. SL5 acceptor sites occur in genes in internal segments of polycistronic transcripts.]
SL6_acceptor_site	SO_0001751	[A SL2_acceptor_site which appends the SL6 RNA leader sequence to the 5' end of an mRNA. SL6 acceptor sites occur in genes in internal segments of polycistronic transcripts.]
five_prime_terminal_inverted_repeat	SO_0000420
pseudogenic_gene_segment	SO_0001741	[A gene segment which when incorporated by somatic recombination in the final gene transcript results in a nonfunctional product.]
copy_number_gain	SO_0001742	[A sequence alteration whereby the copy number of a given regions is greater than the reference sequence.]
copy_number_loss	SO_0001743	[A sequence alteration whereby the copy number of a given region is less than the reference sequence.]
anismus	DOID_0050839	[A focal dystonia that is characterized by the failure of the pelvic floor muscles to relax during defecation.]
UPD	SO_0001744	[Uniparental disomy is a sequence_alteration where a diploid individual receives two copies for all or part of a chromosome from one parent and no copies of the same chromosome or region from the other parent.]
maternal_uniparental_disomy	SO_0001745	[Uniparental disomy is a sequence_alteration where a diploid individual receives two copies for all or part of a chromosome from the mother and no copies of the same chromosome or region from the father.]
paternal_uniparental_disomy	SO_0001746	[Uniparental disomy is a sequence_alteration where a diploid individual receives two copies for all or part of a chromosome from the father and no copies of the same chromosome or region from the mother.]