Terminology Service < Semantic Lookup Platform

All terms in CLO

Label	Id	Description
immortal mouse hematopoietic cell line cell	CLO_0000966
DS19 cell	CLO_0002823
GM02768 cell	CLO_0014804	[ CUTIS LAXA]
cutis laxa	DOID_3144
GM50081 cell	CLO_0014805	[ ADDITIONAL DELETION/DERIVATIVE CHROMOSOME 18 SOMATIC CELL HYBRIDS]
GM02767 cell	CLO_0014806	[ ANEUPLOID CHROMOSOME NUMBER - TRISOMY TRISOMY 21]
Down's syndrome	EFO_0001064	[A disorder caused by the presence of all or part of an extra 21st chromosome, characterized by structural abnormalities throughout the body. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. (Adapted from Wikipedia), A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe MENTAL RETARDATION. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213), A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births. Abnormalities are variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, transverse palmar crease, lenticular opacities and heart disease. Patients with Down syndrome have an estimated 10 to 30-fold increased risk for leukemia; most have symptoms of Alzheimer's disease by age 40. Also known as trisomy 21 syndrome. --2004]
GM02766 cell	CLO_0014807	[ DIABETES MELLITUS, JUVENILE-ONSET INSULIN-DEPENDENT; IDDM]
GM02765 cell	CLO_0014808	[ DIABETES MELLITUS, JUVENILE-ONSET INSULIN-DEPENDENT; IDDM]
GM02764 cell	CLO_0014809	[ DIABETES MELLITUS, JUVENILE-ONSET INSULIN-DEPENDENT; IDDM]
GM02770 cell	CLO_0014800	[ FABRY DISEASE]
GM02769 cell	CLO_0014801	[ FABRY DISEASE]
GM50077 cell	CLO_0014802	[ ADDITIONAL DELETION/DERIVATIVE CHROMOSOME 5 SOMATIC CELL HYBRIDS]
GM50082 cell	CLO_0014803	[ ADDITIONAL DELETION/DERIVATIVE CHROMOSOME 18 SOMATIC CELL HYBRIDS]
DS-5 cell	CLO_0002826	[disease: hybridoma]
DS-3 cell	CLO_0002825	[disease: hybridoma]
DSDh cell	CLO_0002828	[disease: retroviral packaging line]
immortal dog fibroblast cell line cell	CLO_0000965
DS-6 cell	CLO_0002827	[disease: hybridoma]
DS-G23 cell	CLO_0002829	[disease: erythroleukemia]