Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
X-04357 measurement	EFO_0021189	[Quantification of the amount of X-04357 in a sample.]
X-03094 measurement	EFO_0021188	[Quantification of the amount of X-03094 in a sample.]
anonychia-onychodystrophy syndrome	MONDO_0019577
X-02269 measurement	EFO_0021183	[Quantification of the amount of X-02269 in a sample.]
X-02249 measurement	EFO_0021182	[Quantification of the amount of X-02249 in a sample.]
X-03003 measurement	EFO_0021185	[Quantification of the amount of X-03003 in a sample.]
X-02973 measurement	EFO_0021184	[Quantification of the amount of X-02973 in a sample.]
autosomal recessive cutis laxa type 1	MONDO_0019572	[Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).]
hypotrichosis simplex of the scalp	MONDO_0019575	[Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp.]
X-01911 measurement	EFO_0021181	[Quantification of the amount of X-01911 in a sample.]
theophylline measurement	EFO_0021180	[Quantification of the amount of theophylline in a sample.]
autosomal dominant cutis laxa	MONDO_0019571	[Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.]
Cockayne syndrome type 2	MONDO_0019570	[Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6.]
obsolete_mitochondrial neurogastrointestinal encephalomyopathy	Orphanet_298
Enchondromatosis	Orphanet_296	[Enchondromatosis is a rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.]
polymorphic ventricular tachycardia	MONDO_0020575	[A ventricular tachycardia that is irregular in rate and rhythm.]
disease susceptibility	MONDO_0042489	[A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases.]
theobromine measurement	EFO_0021179	[Quantification of the amount of theobromine in a sample.]
7-methylxanthine measurement	EFO_0021176	[Quantification of the amount of 7-methylxanthine in a sample.]
autosomal dominant Charcot-Marie-Tooth disease type 2K	MONDO_0020558	[Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.]