Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency	Orphanet_93583
obsolete_atypical hemolytic-uremic syndrome with anti-factor H antibodies	Orphanet_93581
knee joint	UBERON_0001485	[The knee joint joins the thigh with the leg and consists of two articulations: one between the femur and tibia, and one between the femur and patella. It is the largest and most complicated joint in the human body. The knee is a mobile trocho-ginglymus (i.e. a pivotal hinge joint), which permits flexion and extension as well as a slight medial and lateral rotation[WP,unvetted].]
obsolete_atypical hemolytic-uremic syndrome with I factor anomaly	Orphanet_93580
inosine-5'-monophosphate dehydrogenase 1 measurement	EFO_0008158	[quantification of the amount of inosine-5'-monophosphate dehydrogenase 1 in a sample]
inosine-5'-monophosphate dehydrogenase 2 measurement	EFO_0008159	[quantification of the amount of inosine-5'-monophosphate dehydrogenase 2 in a sample]
hepatocyte growth factor-like protein measurement	EFO_0008154	[quantification of the amount of hepatocyte growth factor-like protein in a sample]
lateral meningocele syndrome	MONDO_0007537
histidine-rich glycoprotein measurement	EFO_0008155	[quantification of the amount of histidine-rich glycoprotein in a sample]
obsolete_late-onset nephronophthisis	Orphanet_93589
homocysteine	CHEBI_17230
amelogenesis imperfecta, type 3A	MONDO_0007538	[Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene.]
human Chorionic Gonadotropin measurement	EFO_0008156	[quantification of the amount of human Chorionic Gonadotropin in a sample]
inorganic pyrophosphatase measurement	EFO_0008157	[quantification of the amount of inorganic pyrophosphatase in a sample]
obsolete_familial cystic renal disease	Orphanet_93587
congenital lobar emphysema	MONDO_0007536	[Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung.]
respiratory or mediastinal malformation	MONDO_0020023
elliptocytosis 2	MONDO_0007533	[Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene.]
hereditary elliptocytosis	MONDO_0017319	[Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.]
idiopathic syringomyelia	MONDO_0020510	[Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiably cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding.]