Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Abnormality of upper limb joint	HP_0009810
Limb joint contracture	HP_0003121	[A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs.]
signal transduction	GO_0007165	[ The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. ]
regulation of cellular process	GO_0050794	[ Any process that modulates the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. ]
Nilaparvata lugens	EO_0007317	[The brown planthopper (Nilaparvata lugens) is a typical vascular feeder and considered one of the most serious pests of all rice herbivores.]
Insecta	NCBITaxon_50557	[Insecta (insects) are a class of invertebrates within the arthropod phylum that have a chitinous exoskeleton, a three-part body (head, thorax and abdomen), three pairs of jointed legs, compound eyes and one pair of antennae. They are among the most diverse groups of animals on the planet, including more than a million described species and representing more than half of all known living organisms.]
Radial bowing	HP_0002986	[A bending or abnormal curvature of the radius.]
Abnormal upper limb bone morphology	HP_0040070
Triangular face	HP_0000325	[Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.]
Femoral bowing	HP_0002980	[Bowing (abnormal curvature) of the femur.]
obsolete_partial deletion of chromosome 3	Orphanet_261776
RNA extraction protocol	EFO_0010959	[Nucleic acid extraction protocol that specifies a procedure for separating and recovering the RNA fraction of an input material.]
nucleic acid extraction protocol	EFO_0002944	[A protocol description in which a material separation to recover the nucleic acid fraction of an input material is performed]
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12	EFO_0010955	[An autosomal recessive limb-girdle congenital muscular dystrophy, characterized by muscle weakness and delayed motor development in association with cognitive impairment.]
muscular dystrophy-dystroglycanopathy, type C	MONDO_0000173
peroxisome biogenesis disorder, complementation group 7	EFO_0010956	[A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).]
obsolete_partial deletion of chromosome 2	Orphanet_261771
autosomal recessive dilated cardiomyopathy	EFO_0010953	[Dilated cardiomyopathy, characterized by dilation and contractile dysfunction of the left and right ventricles, with an autosomal recessive pattern of inheritance.]
dilated cardiomyopathy	EFO_0000407	[Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure., decreased function of the heart associated with cardiac enlargement and congestive heart failure, An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently., A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein.]
cask-related x-linked intellectual disability	EFO_0010954	[XL-ID with or without nystagmus (rapid, involuntary eye movements) is a milder form of CASK-related intellectual disability. The intellectual disability in this form of the disorder can range from mild to severe; some affected females have normal intelligence. About half of affected individuals have nystagmus. Seizures and rhythmic shaking (tremors) may also occur in this form.]