Terminology Service < Semantic Lookup Platform

All terms in BAO

Label	Id	Description
neoglycolipid probe	CHEBI_74886
CD40 ligand deficiency	DOID_0060022	[A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE.]
DNA ligase IV deficiency	DOID_0060021	[A combined T cell and B cell immunodeficiency that has material basis in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay.]
reticular dysgenesis	DOID_0060020	[A severe combined immunodeficiency that is the most severe form of SCID and has material basis in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions.]
visual epilepsy	DOID_11832
cortical blindness	DOID_11831
Macaca mulatta	NCBITaxon_9544
myopia	DOID_11830	[A refractive error characterized by the inability to see farther objects clearly.]
Macaca fascicularis	NCBITaxon_9541
hepatoprotective agent	CHEBI_62868
sudden infant death syndrome	DOID_9007	[A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation.]
clubfoot	DOID_11836	[A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities.]
thromboxane A2 antagonist	CHEBI_85540
psoriatic arthritis	DOID_9008	[A syndrome that occurs in humans with psoriasis who also experience symptoms similar to arthritis.]
EC 1.1.1.21 (aldehyde reductase) inhibitor	CHEBI_48550
coronary artery vasospasm	DOID_11840
dystonia	DOID_543
aphasia	DOID_0060046	[A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language.]
dopaminergic antagonist	CHEBI_48561
atypical autism	DOID_0060042	[An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism.]