Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
neoplasm of floor of mouth	MONDO_0021383	[A neoplasm (disease) that involves the mouth floor.]
obsolete_Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations	Orphanet_319462
obsolete_inherited acute myeloid leukemia	Orphanet_319465
neuropathy, congenital hypomelinating	MONDO_0033352
Hyperphosphatemia	HP_0002905	[An abnormally increased phosphate concentration in the blood.]
Abnormal blood phosphate concentration	HP_0100529	[An abnormality of phosphate homeostasis or concentration in the body.]
Hyperbilirubinemia	HP_0002904	[An increased amount of bilirubin in the blood.]
Abnormal circulating carboxylic acid concentration	HP_0004354	[Any deviation from the normal concentration of a carboxylic acid in the blood circulation.]
Abnormal circulating nitrogen compound concentration	HP_0004364	[Any deviation from the normal concentration of a nitrogen compound in the blood circulation.]
Microscopic hematuria	HP_0002907	[Microscopic hematuria detected by dipstick or microscopic examination of the urine.]
Hematuria	HP_0000790	[The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).]
Hypocalcemia	HP_0002901	[An abnormally decreased calcium concentration in the blood.]
Abnormal circulating calcium concentration	HP_0004363	[Any deviation from the normal concentration of calcium in the blood circulation.]
neoplasm of minor salivary gland	MONDO_0021370	[A neoplasm (disease) that involves the minor salivary gland.]
Hypokalemia	HP_0002900	[An abnormally decreased potassium concentration in the blood.]
Abnormal blood ion concentration	HP_0003111	[Abnormality of the homeostasis (concentration) of a monoatomic ion.]
Abnormal blood sodium concentration	HP_0010931	[An abnormal concentration of sodium.]
Epstein-Barr virus seropositivity	EFO_0010908	[The result of a measurement of circulating Epstein-Barr virus-specific antibodies.]
SPLiT-seq	EFO_0009919	[Split-pool ligation-based transcriptome sequencing (SPLiT-seq) is a single-cell RNA-seq method that labels the cellular origin of RNA through combinatorial barcoding.]
adrenomedullin measurement	EFO_0010909	[Quantification of the amount of adrenomedullin in a sample]