Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
iPS-NIHi11	EFO_0007952	[Induced pluripotent stem cell line isolated from skin sample AG20443.]
oculomucocutaneous syndrome	EFO_0020917	[Oculomucocutaneous syndrome is characterized by keratoconjunctivitis sicca (dry eyes) and the resulting scarring, fibrosis, metaplasia, and shrinkage of the conjunctiva.]
hFib2-iPS4	EFO_0007951	[This induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts, by viral transduction of OCT4, SOX2, KLF4, c-MYC, hTERT, and SV40 Large T antigen transgenes. Cells express pluripotent markers and have a normal karyotype, 46XY.]
X-linked intellectual disability, Vitale type	Orphanet_85289
obsolete_omphalocele syndrome, Shprintzen-Goldberg type	Orphanet_3164
non-allergic anaphylaxis	EFO_0020918	[Anaphylactoid reaction or non-allergic anaphylaxis are immediate systemic reactions that mimic anaphylaxis but are not caused by IgE-mediated immune responses.]
GM23338	EFO_0007950	[Induced pluripotent stem cell line; Participant #1 (hu43860C) in the Personal Genome Project: http://www.personalgenomes.org Fibroblast culture from this same subject from which this cell line was made is GM23248and a matching lymphoblast line from this same subject is GM20431.]
inborn disorder of gamma-aminobutyric acid metabolism	MONDO_0019224	[An acquired metabolic disease that is has its basis in the disruption of gamma-aminobutyric acid metabolic process.]
obsolete_SHORT syndrome	Orphanet_3163
subacute myelo-opticoneuropathy	EFO_0020919	[Subacute myelo-optico-neuropathy (SMON) is a neuro-degenerative disorder caused by poisoning due to over-dose and prolonged oral administration of clioquinol. This was shown by an epidemiological study in Japan in 1971, and confirmed by a series of animal experiments. It is characterized by symptoms of severe myelo-neuropathy: painful dysesthesia and paresthesia (such as tingling, stinging, fastening, cold, and sticking sensations) initiating in and moving upwards from the feet, loss of sensations, gait disturbance with ataxic and spastic paraplegia, autonomic disorders, and visual impairment, which almost invariably followed a severe abdominal pain (and sometimes led to loss of consciousness and opisthotonus), constipation, and diarrhea.]
X-linked intellectual disability - spastic quadriparesis	Orphanet_163982
decreased kidney function	EFO_0020912	[Reduced ability of the kidney to perform its functions.]
monocyte:lymphocyte ratio	EFO_0007956	[quantification of the ratio between absolute monocyte count and absolute lymphocyte count]
sarcosinemia	MONDO_0010008	[Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency.]
glycine metabolism disease	MONDO_0045020	[A disease that has its basis in the disruption of glycine metabolic process.]
inborn disorder of serine family metabolism	MONDO_0019239	[An acquired metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process.]
electrocardiogram repolarisation abnormality	EFO_0020913	[Indicates a measured cardiac repolarisation outside of the reference range.]
mouth morphology measurement	EFO_0007955	[quantification of some aspect of mouth morphology such as mouth width]
microbrachycephaly-ptosis-cleft lip syndrome	MONDO_0010007	[Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.]
disorientation	EFO_0020914	[Inability to correctly acknowledge the current time, place, one's role, and personal identity.]