Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
motility assay	EFO_0002908	[A motility assay is an assay which measures the controlled movement of a population of cells.]
population growth assay	EFO_0002907	[A population growth assay is an assay that measures the multiplication or reproduction of cells, resulting in the rapid expansion of a cell population.]
microscopy assay	EFO_0002909	[A microscopy assay is an assay that provides images of molecules at various resolution depending on the technology used.]
Profound global developmental delay	HP_0012736	[A profound delay in the achievement of motor or mental milestones in the domains of development of a child.]
Global developmental delay	HP_0001263	[A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.]
genetic macular dystrophy	MONDO_0020242	[Macular dystrophy that is related to a change in a gene.]
Cough	HP_0012735	[A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.]
ENCODE	EFO_0002910	[ENCODE, full name the Encyclopedia Of DNA Elements, is a public research consortium which has the aim of identifying all functional elements in the human genome sequence.]
Decreased nerve conduction velocity	HP_0000762	[A reduction in the speed at which electrical signals propagate along the axon of a neuron.]
chemical role	CHEBI_51086	[A role played by the molecular entity or part thereof within a chemical context.]
Sensory neuropathy	HP_0000763	[Peripheral neuropathy affecting the sensory nerves.]
acquired dermis elastic tissue disorder	MONDO_0016434	[An instance of dermis elastic tissue disorder that is acquired during the lifetime of the individual.]
GM17758	CLO_0016608	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
autosomal dominant Charcot-Marie-Tooth disease type 2M	MONDO_0016431	[Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.]
Charcot-Marie-Tooth disease dominant intermediate B	MONDO_0011674	[Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.]
heart-hand syndrome	MONDO_0016432	[Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies.]
posterior cingulate cortex	UBERON_0022353	[Component of the cingulate cortex. The rostral and caudal extent were the caudal anterior and the isthmus divisions of the cingulate cortex respectively. The medial and lateral boundaries were the corpus callosum and as the superior frontal gyrus and/or paracentral lobule respectively (Christine Fennema-Notestine).]
cingulate cortex	UBERON_0003027	[The cingulate cortex is a part of the brain situated in the medial aspect of the cortex. It is extended from the corpus callosum below to the cingulate sulcus above, at least anteriorly. [WP,unvetted].]
Short palpebral fissure	HP_0012745	[Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.]
dysmorphism-short stature-deafness-disorder of sex development syndrome	MONDO_0016433	[Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait.]