Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
ciprofibrate	CHEBI_50867	[A ring assembly that has formula C13H14Cl2O3.]
propionylcarnitine measurement	EFO_0020942	[Quantification of propionylcarnitine in a sample.]
4-nitrotoluene	CHEBI_35227	[A member of the 4-nitrotoluenes that has formula C7H7NO2.]
cardiocranial syndrome, Pfeiffer type	MONDO_0009036	[Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit).]
cholesterol:total lipids ratio	EFO_0020943	[Quantification of the ratio of cholesterol to total lipids in a sample.]
cholesteryl esters:total lipids ratio	EFO_0020944	[Quantification of the ratio of cholesteryl esters to total lipids in a sample.]
craniofacial dyssynostosis	MONDO_0009034	[Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus.]
3H-1,2-dithiole-3-thione	CHEBI_50866	[A 1,2-dithiole that has formula C3H2S3.]
Crigler-Najjar syndrome	MONDO_0009044	[Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.]
generalized resistance to thyroid hormone	MONDO_0009043	[A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues.]
craniotelencephalic dysplasia	MONDO_0009042	[Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.]
Smith-Lemli-Opitz syndrome	MONDO_0010035	[Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.]
cholesterol biosynthetic process disease	MONDO_0045017	[A disease that has its basis in the disruption of cholesterol biosynthetic process.]
platelet function test	EFO_0020940	[An assay that measures the ability of platelets to aggregate and promote clotting in a sample of blood.]
Platichthys flesus	NCBITaxon_8260
Protrusio acetabuli	HP_0003179	[Intrapelvic bulging of the medial acetabular wall.]
obsolete_pustulosis palmaris et plantaris	Orphanet_163927
congenital heart defect-round face-developmental delay syndrome	MONDO_0010039	[Heart defect B round face B congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit.]
autosomal recessive limb-girdle muscular dystrophy type 2M	MONDO_0012699	[A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.]
growth delay due to insulin-like growth factor I resistance	MONDO_0010038	[Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).]