Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
fms related receptor tyrosine kinase-3 ligand measurement	EFO_0010785	[Quantification of the amount of fibroblast growth factor 19 in a sample]
acute hemorrhagic conjunctivitis	EFO_0007131	[Acute conjunctivitis that is characterized by bleeding into the conjunctiva., A viral infectious disease that results_in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted_by contaminated fomites or transmitted_by contact with contaminated hands. The infection has_symptom vascular dilation, has_symptom eyelid edema, has_symptom photophobia, has_symptom redness of the eyes, has_symptom watering of the eye, has_symptom conjunctival congestion, and has_symptom superficial punctate epithelial keratitis.]
acute conjunctivitis	MONDO_0001214	[Acute inflammation of the conjunctiva.]
viral eye infection	MONDO_0020950	[Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus.]
viral conjunctivitis	EFO_0008571	[Conjunctivitis resulting from viral infection., Inflammation, often mild, of the conjunctiva caused by a variety of viral agents. Conjunctival involvement may be part of a systemic infection [MeSH]]
acrofrontofacionasal dysostosis	MONDO_0008715	[A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.]
fibroblast growth factor 19 measurement	EFO_0010782	[Quantification of the amount of fms related receptor tyrosine kinase 3 ligand in a sample]
isoleucine measurement	EFO_0009793	[Quantification of the amount of the amino acid isoleucine in a sample.]
akinetic mutism	EFO_0007138	[A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67), A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness.]
acrofacial dysostosis Rodriguez type	MONDO_0008714	[Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.]
branchial arch or oral-acral syndrome	MONDO_0015334
dysostosis with predominant craniofacial involvement	MONDO_0800085
fibroblast growth factor 21 measurement	EFO_0010783	[Quantification of the amount of fibroblast growth factor 5 in a sample]
AIDS related complex	EFO_0007137	[A Human immunodeficiency virus infectious disease that results_in infection with mild symptoms, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom swollen lymph glands, has_symptom fever, has_symptom diarrhea, and has_symptom weight loss., A prodromal phase of infection with the human immunodeficiency virus (HIV). Laboratory criteria separating aids-related complex (ARC) from aids include elevated or hyperactive B-cell humoral immune responses, compared to depressed or normal antibody reactivity in aids; follicular or mixed hyperplasia in arc lymph nodes, leading to lymphocyte degeneration and depletion more typical of aids; evolving succession of histopathological lesions such as localization of Kaposi's sarcoma, signaling the transition to the full-blown aids.]
NRF2 measurement	EFO_0009794	[Quantification of the amount of nuclear factor (erythroid-derived 2)-like 2 protein in a sample.]
acrodermatitis enteropathica	MONDO_0008713	[Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.]
intestinal disease due to fat malabsorption	MONDO_0015180
disorder of zinc metabolism	MONDO_0017764
obsolete_qualitative or quantitative defects of protein glycosyltransferase-like	Orphanet_209027
agnosia	EFO_0007136	[A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss., A rare disorder characterized by the lack of ability to recognize individuals, objects, shapes, sounds, or smells. There is no loss of memory. It is caused by neurological damage in the brain, specifically in the occipital or parietal lobes.]