Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
obsolete Hodgkin's lymphoma, mixed cellularity, extranodal and solid organ sites	DOID_9121
modified_L_valine	SO_0001403	[A post translationally modified valine amino acid feature.]
myasthenia gravis	DOID_437	[An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom dyspnea.]
modified_L_proline	SO_0001404	[A post translationally modified proline amino acid feature.]
posterior mediastinum cancer	DOID_436
modified_L_tyrosine	SO_0001405	[A post translationally modified tyrosine amino acid feature.]
hydrazide	CHEBI_35362	[Compounds derived from oxoacids RkE(=O)l(OH)m (l =/= 0) by replacing -OH by -NRNR2 (R groups are commonly H). (IUPAC).]
obsolete malignant neoplasm of thymus, heart and mediastinum	DOID_435
modified_L_arginine	SO_0001406	[A post translationally modified arginine amino acid feature.]
obsolete anterior mediastinum cancer	DOID_434
tooth-like structure	UBERON_0003913
lower gum cancer	DOID_9125
peptidyl	SO_0001407	[An attribute describing the nature of a proteinaceous polymer, where by the amino acid units are joined by peptide bonds.]
cleaved_for_gpi_anchor_region	SO_0001408	[The C-terminal residues of a polypeptide which are exchanged for a GPI-anchor.]
homocarnosinosis	DOID_0060177	[A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine.]
gamma-amino butyric acid metabolism disorder	DOID_0060176	[An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.]
succinic semialdehyde dehydrogenase deficiency	DOID_0060175	[A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid.]
GABA aminotransferase deficiency	DOID_0060174	[A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde.]
Timothy syndrome	DOID_0060173	[A syndrome that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of CACNA1C on chromosome 12p13.33.]
obsolete Dravet syndrome	DOID_0060171