mental retardation
congenital chromosomal disease
syndrome
Down's syndrome
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
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 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)
Complete trisomy 21 syndrome
Complete trisomy 21 syndrome (disorder)
DOID:14250
Down syndrome
Down's Syndrome
Down's syndrome - trisomy 21
Down's syndrome NOS
Down's syndrome NOS (disorder)
G Trisomy
GeneRIF:11331941
GeneRIF:11565556
GeneRIF:11771735
GeneRIF:11771736
GeneRIF:11771738
GeneRIF:11771745
GeneRIF:11771746
GeneRIF:11771749
GeneRIF:11771750
GeneRIF:11771751
GeneRIF:11771755
GeneRIF:11771757
GeneRIF:11771758
GeneRIF:11771762
GeneRIF:11771764
GeneRIF:11810642
GeneRIF:11824616
GeneRIF:11856873
GeneRIF:11879646
GeneRIF:11920898
GeneRIF:12032275
GeneRIF:12070657
GeneRIF:12080391
GeneRIF:12109594
GeneRIF:12145461
GeneRIF:12172547
GeneRIF:12200143
GeneRIF:12359327
GeneRIF:12393509
GeneRIF:12400059
GeneRIF:12459318
GeneRIF:12469345
GeneRIF:12499044
GeneRIF:12515899
GeneRIF:12529699
GeneRIF:12576745
GeneRIF:12586620
GeneRIF:12628594
GeneRIF:12650976
GeneRIF:12767918
GeneRIF:12771203
GeneRIF:12796830
GeneRIF:12816863
GeneRIF:12895444
GeneRIF:12923861
GeneRIF:12931206
GeneRIF:12943237
GeneRIF:12957488
GeneRIF:14512321
GeneRIF:14615042
GeneRIF:14636651
GeneRIF:14656875
GeneRIF:14678752
GeneRIF:14701734
GeneRIF:14738882
GeneRIF:15068237
GeneRIF:15068239
GeneRIF:15068241
GeneRIF:15068242
GeneRIF:15068243
GeneRIF:15068244
GeneRIF:15068245
GeneRIF:15068251
GeneRIF:15068254
GeneRIF:15082224
GeneRIF:15103709
GeneRIF:15169762
GeneRIF:15184603
GeneRIF:15255950
GeneRIF:15358155
GeneRIF:15661359
GeneRIF:15694837
GeneRIF:15804423
GeneRIF:15820773
GeneRIF:15946822
GeneRIF:16222229
GeneRIF:16231093
GeneRIF:16274669
ICD9:758.0
James Malone
MSH:D004314
Mongolism
NCIt:C2993
NIFSTD:nlx_dys_20090502
Partial Trisomy 21 Down Syndrome
SNOMEDCT:254263008
SNOMEDCT:41040004
T21 - Trisomy 21
Tomasz Adamusiak
Trisomy 21
Trisomy 21 NOS
Trisomy 21 Syndrome
Trisomy 21, Meiotic Nondisjunction
Trisomy 21, Mitotic Nondisjunction
URI: http://www.ebi.ac.uk/cellline#Down_syndrome