Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
CD3epsilon deficiency	DOID_0060017	[A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex.]
Brown-Vialetto-Van Laere syndrome	DOID_0050694	[A syndrome that is characterized by progressive bulbar palsies with sensorineural deafness.]
CD3delta deficiency	DOID_0060016	[A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development.]
Severe combined immunodeficiency	HP_0004430	[A combined immunodeficiency primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.]
Brooke-Spiegler syndrome	DOID_0050693	[A skin disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12.]
interleukin-7 receptor alpha deficiency	DOID_0060015	[A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus.]
CD45 deficiency	DOID_0060014	[A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age.]
malignant pleural solitary fibrous tumor	DOID_0050695	[A pleural cancer that is located_in mesenchymal cells in the areolar tissue subjacent to the mesothelial-lined pleura.]
cryptic_splice_acceptor	SO_0001570	[A sequence variant whereby a new splice site is created due to the activation of a new acceptor.]
cryptic_splice_site_variant	SO_0001569	[A sequence variant causing a new (functional) splice site.]
Breast hypoplasia	HP_0003187	[Underdevelopment of the breast.]
cryptic_splice_donor	SO_0001571	[A sequence variant whereby a new splice site is created due to the activation of a new donor.]
foldback_element	SO_0000238	[A transposable element with extensive secondary structure, characterized by large modular imperfect long inverted repeats.]
exon_loss_variant	SO_0001572	[A sequence variant whereby an exon is lost from the transcript.]
intron_gain_variant	SO_0001573	[A sequence variant whereby an intron is gained by the processed transcript; usually a result of an alteration of the donor or acceptor.]
splice_acceptor_variant	SO_0001574	[A splice variant that changes the 2 base region at the 3' end of an intron.]
splice_site_variant	SO_0001629	[A sequence variant that changes the first two or last two bases of an intron, or the 5th base from the start of the intron in the orientation of the transcript.]
splice_donor_variant	SO_0001575	[A splice variant that changes the 2 base pair region at the 5' end of an intron.]
regulatory_region_variant	SO_0001566	[A sequence variant located within a regulatory region.]
untranslated_region_polycistronic_mRNA	SO_0000242	[The untranslated sequence separating the 'cistrons' of multicistronic mRNA.]