Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
study design controlled variable	OBI_0000785	[Controlled variable specification is a part of a study design. They are the entities that could vary, but are kept constant to prevent their influence on the effect of the independent variable on the dependent., Controlled variable specification is a part of a study design. They are the entities that could vary, but are kept constant to prevent their influence on the effect of the independent variable on the dependent.]
Dendritic keratitis	EFO_1001883	[a form of herpetic keratitis with dendritic (branching) ulcers]
cutaneous nodular amyloidosis	EFO_1001882	[Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as SjC6grenBs syndrome and CREST syndrome.]
primary cutaneous amyloidosis	MONDO_0015301	[Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis.]
chemotherapy-induced gastrointestinal mucositis	EFO_1001880	[inflammation and ulceration of the gastrointestinal mucosa as a result of chemotherapy treatment]
obsolete_partial duplication of the long arm of chromosome 8	Orphanet_262896
obsolete_hyperphosphatasia-intellectual disability syndrome	Orphanet_247262
obsolete_benign paroxysmal torticollis of infancy	Orphanet_71518
Lactococcus lactis subsp. hordniae	NCBITaxon_203404
Hypomyelination neuropathy - arthrogryposis	Orphanet_2680
polyethylene glycol	CHEBI_46793	[A polymer composed of repeating ethyleneoxy units.]
Rapid-onset dystonia-parkinsonism	Orphanet_71517	[Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.]
Cyclic neutropenia	Orphanet_2686
Strombus gigas	NCBITaxon_291982
sulpiride	CHEBI_32168
obsolete_partial duplication of the long arm of chromosome 7	Orphanet_262887
Neutropenia - monocytopenia - deafness	Orphanet_2690
obsolete_median nodule of the upper lip	Orphanet_2699
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome	Orphanet_2698
Arthrogryposis - renal dysfunction - cholestasis	Orphanet_2697	[Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.]