Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
ventricular rate measurement	EFO_0007928	[quantification in an electrocardiogram of the number of QRS complexes per minute]
spastic ataxia 2	MONDO_0012651	[Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.]
autosomal recessive spastic ataxia	MONDO_0017847	[Autosomal recessive form of spastic ataxia.]
lethal congenital contracture syndrome 3	MONDO_0012656	[Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.]
Mungan syndrome	MONDO_0012657
T-cell and NK-cell neoplasm	MONDO_0024615
Periostitis	HP_0040165	[Inflammation of the periosteum]
Gillichthys mirabilis	NCBITaxon_8222
Nephrogenic diabetes insipidus - intracranial calcification	Orphanet_3145
meningitis caused by poliovirus	MONDO_0024620
obsolete_schneckenbecken dysplasia	Orphanet_3144
LDL cholesterol:HDL cholesterol ratio	EFO_0007930	[quantification of the ratio of LDL cholesterol to HDL cholesterol in a sample]
Optic atrophy-intellectual disability syndrome	Orphanet_401777
hypoplasminogenemia	MONDO_0009009	[Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing.]
creatinine clearance measurement	EFO_0007934	[The clearance rate of creatinine, that is, the volume of plasma that is cleared of creatinine by the kidneys per unit time. Creatinine clearance is calculated using the level of creatinine in a sample of urine, usually one collected over a period of 24 hours, the corresponding plasma creatinine level, and the volume of urine excreted. It is used as an approximation of the glomerular filtration rate (GFR).]
heart defect - tongue hamartoma - polysyndactyly syndrome	MONDO_0009008
radius bone mineral density	EFO_0007933	[mineral density of the radial bone]
radius bone	UBERON_0001423	[The major preaxial endochondral bone in the anterior zeugopod[Phenoscape].]
Jalili syndrome	MONDO_0009007	[Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD).]
multiple keratinocyte carcinoma susceptibility measurement	EFO_0007932	[Quantification of the susceptibility of developing multiple keratinocyte carcinomas (mKC), which is defined as the presence of more than one basal cell carcinoma (BCC) or squamous cell carcinoma (SCC).]