Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
disorder of lacrimal gland	MONDO_0024625	[A disease that involves the lacrimal gland.]
IgG4-related dacryoadenitis and sialadenitis	MONDO_0019191	[IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis.]
lacrimal gland	UBERON_0001817	[The lacrimal glands are paired almond-shaped glands, located in or near the orbital region, that secrete the aqueous layer of the tear film.[WP].]
saliva-secreting gland	UBERON_0001044	[Saliva-secreting exocrine glands of the oral cavity[GO].]
obsolete_rat strain	EFO_0000679	[Strain or line specific to rat.]
all-cis-icosa-5,8,11,14,17-pentaenoic acid	CHEBI_28364	[An icosapentaenoic acid that has formula C20H30O2., An eicosapentaenoic acid having cis double bonds at positions 5, 8, 11, 14 and 17., A monounsaturated long-chain fatty acid with a 20-carbon backbone and the sole double bond originating from the 9th position from the methyl end, with the bond in the cis- configuration.]
icosapentaenoic acid	CHEBI_36006	[Any straight-chain, C20 polyunsaturated fatty acid having five C=C double bonds.]
telangiectatic osteogenic sarcoma	MONDO_0004050	[An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of a cystic architecture with blood-filled spaces. The prognosis is similar to that of conventional osteosarcoma.]
bone osteosarcoma	MONDO_0002629	[A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs.]
Rosa hybrid cultivar	NCBITaxon_128735
novobiocin	CHEBI_28368
corticobasal syndrome	MONDO_0018696	[Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction.]
obsolete_infantile convulsions and choreoathetosis	Orphanet_31709
HSV2 virologic severity measurement	EFO_0009010	[Quantification of the severity of Herpes simplex virus-2 infection, typically by assessment of viral shedding]
hereditary neuroendocrine tumor of small intestine	MONDO_0018698	[An instance of neuroendocrine tumor of the small intestine that is caused by an inherited modification of the individual's genome.]
small intestine neuroendocrine tumor	EFO_1001928	[A neoplasm with neuroendocrine differentiation that arises from the small intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).]
Evans syndrome	MONDO_0016030	[Evans syndrome is a rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology.]
Anemia, Hemolytic, Autoimmune	EFO_1001264	[Acquired hemolytic anemia due to the presence of AUTOANTIBODIES which agglutinate or lyse the patient's own RED BLOOD CELLS., Autoimmune hemolytic anemia (AIHA) is an autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia.]
femoral agenesis/hypoplasia	MONDO_0016032	[Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.]
Cornelia de Lange syndrome	MONDO_0016033	[A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes.]