Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Lotus uliginosus	NCBITaxon_181288
lower urinary tract symptom	EFO_0008008	[Symptoms that result from pathologic processes affecting the urinary bladder and/or urethra. They include urinary frequency, nocturia; urgency, incomplete voiding, and urinary incontinence. They are often associated with overactive bladder; urinary incompetence; and interstitial cystitis. Lower urinary tract symptoms in males were traditionally called prostatism.]
1,5 anhydroglucitol measurement	EFO_0008009	[quantification of the amount of 1,5 anydroglucitol in a sample]
congenital laryngeal web	MONDO_0007880	[Congenital laryngeal web is a rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.]
3-methylhistidine measurement	EFO_0021004	[Quantification of the amount of 3-methylhistidine in a sample.]
4-acetamidobutanoate measurement	EFO_0021003	[Quantification of the amount of 4-acetamidobutanoate in a sample.]
pipecolate measurement	EFO_0021006	[Quantification of the amount of pipecolate in a sample.]
glutaroyl carnitine measurement	EFO_0021005	[Quantification of the amount of glutaroyl carnitine in a sample.]
cysteine measurement	EFO_0021000	[Quantification of the amount of cysteine in a sample.]
3q26 microduplication syndrome	MONDO_0019878	[3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.]
distal trisomy 2q	MONDO_0019877	[Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.]
N-acetylglycine measurement	EFO_0021002	[Quantification of the amount of N-acetylglycine in a sample.]
cysteine-glutathione disulfide measurement	EFO_0021001	[Quantification of the amount of cysteine-glutathione disulfide in a sample.]
distal trisomy 4q	MONDO_0019879	[Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported.]
distal trisomy 7p	MONDO_0019874	[Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported.]
obsolete_lethal chondrodysplasia	Orphanet_93465
arylsulfatase B measurement	EFO_0008030	[quantification of the amount of arylsulfatase B in a sample]
4p16.3 microduplication syndrome	MONDO_0019873	[4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.]
paraneoplastic uveitis	MONDO_0017212
non-infectious posterior uveitis	MONDO_0019541