Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
acquired thrombotic thrombocytopenic purpura	MONDO_0019740	[Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.]
acquired thrombocytopenia	MONDO_0001198	[An instance of thrombocytopenia that is acquired during the lifetime of the individual.]
hyperparathyroidism 2 with jaw tumors	MONDO_0007768	[An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts.]
Morgagni-Stewart-Morel syndrome	MONDO_0007766	[Morgagni-Stewart-Morel syndrome is characterised by thickening of the inner table of the frontal bone, sometimes associated with obesity and hypertrichosis. It mainly affects women over 35 years of age. The prevalence and clinical significance of hyperostosis frontalis interna is unknown. Transmission is either X-linked or autosomal dominant.]
autosomal dominant osteosclerosis, Worth type	MONDO_0007764	[A sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.]
hyperostosis cranialis interna	MONDO_0007765
hyperlipoproteinemia type V	MONDO_0007762	[A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I.]
hyperlipoproteinemia type IV	MONDO_0007761	[A laboratory test result indicating an autosomal dominant condition in which there is increased very low density lipoprotein production, which leads to increased triglyceride concentration.]
Euphausia superba	NCBITaxon_6819
corpuscles of Stannius	UBERON_2001200	[Islands of eosinic cells found on the lateroventral surface of the kidney. Function is thought to be that of the parathyroid gland in other vertebrates, which are lacking in fishes. These cells secrete hypocalcin (teleocalcin) to regulate calcium metabolism.]
Xanthomonas oryzae pv. oryzae PXO99A	NCBITaxon_360094
alkaline ceramidase 3 deficiency	MONDO_0044718
epispadias	MONDO_0019759	[Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra.]
exstrophy-epispadias complex	MONDO_0017919	[A spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus.]
mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	MONDO_0044714
acute leukemia of ambiguous lineage	MONDO_0019460	[An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001)]
Helianthus annuus	NCBITaxon_4232
afimoxifene	CHEBI_44616
obsolete_X-linked spondyloepimetaphyseal dysplasia	Orphanet_93349
autosomal dominant Opitz G/BBB syndrome	MONDO_0007779	[Autosomal dominant form of Opitz G/BBB syndrome.]