Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
autosomal recessive spastic paraplegia type 70	MONDO_0018422	[Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.]
Metarubricyte Count	EFO_0009240	[The determination of the amount of metarubricytes present in a sample. [ NCI ]]
complete blood cell count	EFO_0004586	[A complete blood cell count quantifies specific blood components. ]
autosomal recessive spastic paraplegia type 69	MONDO_0018421
Monocytoid Cells to Leukocytes Ratio Measurement	EFO_0009241	[The determination of the ratio of monocytoid cells compared to leukocytes present in a sample. The measurement may be expressed as a ratio or percentage. [ NCI ]]
inherited lipoic acid biosynthesis defect	MONDO_0018424	[An acquired metabolic disease that is has its basis in the disruption of lipoate biosynthetic process.]
sulfur metabolism disease	MONDO_0056803	[A disease that has its basis in the disruption of sulfur compound metabolic process.]
inherited fatty acid metabolism disorder	MONDO_0037858	[A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources.]
inborn mitochondrial metabolism disorder	MONDO_0004069	[Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.]
Myeloid Progenitor Cell Count	EFO_0009242	[The determination of the number of myeloid progenitor cells in a sample. [ NCI ]]
autosomal recessive spastic paraplegia type 71	MONDO_0018423
autosomal recessive pure spastic paraplegia	MONDO_0015090	[Autosomal recessive form of pure hereditary spastic paraplegia.]
phosphatidylethanolamine ether measurement	EFO_0010229	[A quantification of phosphatidylethanolamine ethers.]
cardiovascular disease biomarker measurement	EFO_0005278	[cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses]
cardiovascular disease	EFO_0000319	[A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma. -- 2003, Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM., A body system disease which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis., A disease involving the cardiovascular system., A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma.]
phosphatidylcholine ether measurement	EFO_0010227	[A quantification of phosphatidylcholine ethers.]
autosomal recessive spastic paraplegia type 68	MONDO_0018420
phosphatidylethanolamine measurement	EFO_0010228	[A quantification of phosphatidylethanolamines.]
phosphatidylethanolamine	CHEBI_16038
Ovalocyte Count	EFO_0009247	[The determination of the amount of ovalocytes present in a sample. [ NCI ]]