Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
infection-related hemolytic uremic syndrome	MONDO_0034103
trichomegaly-retina pigmentary degeneration-dwarfism syndrome	MONDO_0010152	[Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.]
Deafness - genital anomalies - metacarpal and metatarsal synostosis	Orphanet_3224
obsolete_phosphoribosylpyrophosphate synthetase superactivity	Orphanet_3222
obsolete_generalized resistance to thyroid hormone	Orphanet_3221
non-substance related disinhibited behaviour	EFO_0005432	[A disinhibited behaviour non-substance related as opposed to disinhibited behaviour due to alcohol consumption for example.]
obsolete_Deafness - enamel hypoplasia - nail defects	Orphanet_3220
array control biosequence	EFO_0005433	[An array design in which a reporter on an array associated with a BioSequence that has a context dependent predicted signal. e.g. a yeast reporter on a human array, is a control biosequence expected to be of low signal if no spikes are used. If spikes are used, the signal is expected to be high.]
nicotine use	EFO_0005430
Holothuria glaberrima	NCBITaxon_31192
illegal drug consumption	EFO_0005431	[The consumption of illegal drug such as heroine. Note that some drug like cannabis are illegal in some countries but legal in others.]
array control genomic DNA	EFO_0005436	[An array design in which a reporter has genomic DNA deposited on it; the genomic DNA may be fragmented, e.g. salmon sperm DNA, Cot1DNA.]
array control hybridization quality	EFO_0005437	[An array design in which a reporter is included that could be used to determine the quality and general performance of the labeled extract. An example is a pool of BioSequences representing widely-expressed genes (i.e., housekeeping genes).]
array control buffer	EFO_0005434	[An array design in which an array contains a reporter where only buffer was deposited on the array, acting as a control.]
array control empty	EFO_0005435	[An array design in which a reporter on an array has no material or buffer was deposited on the array.]
Fowler syndrome	MONDO_0009168
array control label	EFO_0005438	[An array design in which a reporter is used as a control where some label has been deposited. This includes fluor and radioactively labeled oligos and fluors alone.]
Deafness - lymphedema - leukemia	Orphanet_3226	[Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.]
Bonnemann-Meinecke-Reich syndrome	MONDO_0009167	[Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.]
array control reporter size	EFO_0005439	[An array design in which a Reporter is included on an array of whose BioSequence is of known length used as a methodological control for hybridization efficiency. ]