Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Classical homocystinuria	Orphanet_394
obsolete_46,XX testicular disorder of sex development	Orphanet_393	[46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.]
obsolete_Holt-Oram syndrome	Orphanet_392	[Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.]
Hand-foot syndrome	EFO_1001893
generalized anxiety disorder	EFO_1001892	[An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation., An anxiety disorder characterized by excessive and difficult-to-control worry about a number of life situations. The worry is accompanied by restlessness, fatigue, inability to concentrate, irritability, muscle tension, and/or sleep disturbance and lasts for at least 6 months.]
hypertrichosis cubiti-short stature syndrome	MONDO_0007693	[Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.]
Stuttering	HP_0025268	[Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds.]
X-12038 measurement	EFO_0021279	[Quantification of the amount of X-12038 in a sample.]
X-12029 measurement	EFO_0021278	[Quantification of the amount of X-12029 in a sample.]
Snoring	HP_0025267	[Deep, noisy breathing during sleep accompanied by hoarse or harsh sounds caused by the vibration of respiratory structures (especially the soft palate) resulting in sound due to obstructed air movement during breathing while sleeping.]
X-11905 measurement	EFO_0021275	[Quantification of the amount of X-11905 in a sample.]
human papillomavirus-related squamous cell carcinoma	MONDO_0020657
X-11876 measurement	EFO_0021274	[Quantification of the amount of X-11876 in a sample.]
X-12013 measurement	EFO_0021277	[Quantification of the amount of X-12013 in a sample.]
X-12007 measurement	EFO_0021276	[Quantification of the amount of X-12007 in a sample.]
X-11852 measurement	EFO_0021271	[Quantification of the amount of X-11852 in a sample.]
inflorescence development stage	PO_0001083	[A reproductive shoot system development stage (PO:0025530) that has as primary participant a inflorescence (PO:0009049).]
X-11850 measurement	EFO_0021270	[Quantification of the amount of X-11850 in a sample.]
interstitial lung disease specific to adulthood	MONDO_0017026
X-11859 measurement	EFO_0021273	[Quantification of the amount of X-11859 in a sample.]