Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
GM17800	CLO_0016491	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
obsolete_colorectal tumor	EFO_0000360
obsolete_colon	EFO_0000361	[The part of the large intestine measured from the cecum to the rectum consisting of ascending, transverse, descending and sigmoid portions. The purpose of the colon is to remove water from digested food prior to excretion., The posterior intestine has short longitudinally arranged epithelial folds which are similar to the colon of higher vertebrates., The part of the large intestine that extends from the cecum to the rectum.]
obsolete_colon adenocarcinoma	EFO_0000362	[An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well differentiated, moderately, and poorly differentiated. Morphologic variants include the mucinous adenocarcinoma and signet-ring adenocarcinoma. Lymphatic or hematogenous spread can occur early in the process and lead to systemic disease.]
obsolete_colon carcinoma	EFO_0000363	[A malignant tumor usually arising from the epithelium lining the large intestinal mucosa. Colon carcinoma is one of the most common malignancies in both males and females, and is especially common in North America and Europe. Grossly, most colon carcinomas are polypoid or ulcerating lesions. Microscopically, adenocarcinoma is the most frequently seen morphologic subtype. Prognosis depends on the stage of the disease (depth of invasion, metastasis to regional/distal lymph nodes or other anatomic sites). -- 2004]
colon adenocarcinoma	EFO_1001949	[A carcinoma that arises from glandular epithelial cells of the colon]
obsolete_common variable immunodeficiency	EFO_0000367	[A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM)., A primary immunodeficiency characterized by low levels or absence of all the immunoglobulin classes and lack of B-lymphocytes or plasma cells. It results in recurrent bacterial infections. Complications include autoimmune phenomena and cancer development., Heterogeneous group of immunodeficiency syndromes characterized by hypogammaglobulinemia of most isotypes, variable B-cell defects, and the presence of recurrent bacterial infections.]
minor histocompatibility congenic strain	EFO_0000368	[A congenic strain in which the donor allele transferred to the host strain background is a minor histocompatibility gene.]
congenic strain	EFO_0004003	[A congenic strain is an inbred strain that contains a small genetic region (ideally a single gene) from another strain, but which is otherwise identical to the original inbred strain. Congenic strains are derived by backcrossing to a parental inbred strain for at least ten generations while selecting for retention of a specific locus from the donor strain. For example, CBACa.C3-KitW-x/J is an inbred strain of CBA/Ca background onto which the KitW-x allele from C3H/HeJ has been placed.]
obsolete_X-linked non-syndromic sensorineural deafness type DFN	Orphanet_90625
compound based treatment	EFO_0000369	[A treatment process in which a chemical compound is administered to the subject under investigation.]
GM17798	CLO_0016489	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
Congenital chloride diarrhea	Orphanet_53689
obsolete_cystic fibrosis	EFO_0000390	[A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather. -- 2003, A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather.]
damage intensity	EFO_0000391	[A measurement of physical damage, e.g. by a caterpillar on a plant leaf]
obsolete_damage response	EFO_0000392	[Physiological response to e.g. leaf's response to physical damage by a caterpillar on a plant leaf]
potassium bromate	CHEBI_38211	[A bromate salt that has formula BrKO3.]
Robertsonian translocation	EFO_0000393	[A particular type of translocation in which the breakpoints in the two chromosomes occur at or near the centromere, followed by centric fusion such that the long arms now form a metacentric chromosome with a single centromere. Any small fragments generated in the exchange are usually lost. See also]
translocation	EFO_0004024	[A type of chromosome rearrangement in which two nonhomologous chromosomes are each broken and then repaired]
dedifferentiated chondrosarcoma	EFO_0000394	[An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor.]