Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
hypobetalipoproteinemia	MONDO_0017774	[A group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol.]
zinc, elevated plasma	MONDO_0008691
Peritoneal Well Differentiated Papillary Mesothelioma	EFO_1000469	[A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma.]
well differentiated papillary mesothelioma	MONDO_0003688	[A localized or multifocal mesothelioma arising from the peritoneum and less often the pleura. Cases arising from the peritoneum predominantly occur in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to malignant mesothelioma.]
intermittent hydrarthrosis	MONDO_0018015
rheumatic disease	EFO_0005755	[A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue., Inflammatory and degenerative diseases of connective tissue structures, such as arthritis.]
transient neonatal multiple acyl-CoA dehydrogenase deficiency	MONDO_0018014	[Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.]
juvenile idiopathic inflammatory myopathy	MONDO_0018010
acquired idiopathic inflammatory myopathy	MONDO_0020122	[An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies.]
non-immunoglobulin-mediated membranoproliferative glomerulonephritis	MONDO_0018013
primary membranoproliferative glomerulonephritis	MONDO_0018904	[A rare glomerular disease characterized by a pattern of glomerular injury on kidney biopsy with characteristic light microscopic changes: mesangial hypercellularity, endocapillary proliferation, and thickening of the glomerular basement membrane (GBM). On the basis of immunofluorescence (IF) the disorder is divided into C3 glomerulopathy (C3G) or immunoglobulin-mediated membranoproliferative glomerulonephritis. Through electron microscopy C3G is further divided into Dense deposit disease, with highly electrondense deposits in the glomerular basement membrane, and C3 glomerulonephritis, with mesangial, intramembranous, subendothelial and subepithelial deposits. Secondary causes (autoimmune, infectious, malignancies) are excluded.]
Peutz-Jeghers Polyp	EFO_1000470	[A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002]
Gastrointestinal Hamartoma	EFO_1000280	[A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps.]
Peutz-Jeghers Polyp of the Stomach	EFO_1000471	[A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium.]
Gastric Hamartomatous Polyp	EFO_1000271	[A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations.]
synpolydactyly	MONDO_0021651	[A joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits).]
polydactyly	MONDO_0021003	[A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms.]
syndactyly	MONDO_0021002	[A disease characterized by the presence of syndactyly, including syndromic and non-syndromic forms.]
diffuse type adenocarcinoma	MONDO_0021652	[An adenocarcinoma characterized by the presence of a diffuse cellular infiltrate which is composed of poorly cohesive cells with minimal or no glandular formations. Representative example is the gastric diffuse adenocarcinoma.]
pituitary tumor	MONDO_0017611	[A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland.]