loading...| Preferred Name |
Down's syndrome |
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| Synonyms |
Trisomy 21, Meiotic Nondisjunction Down's syndrome NOS Partial Trisomy 21 Down Syndrome Down's Syndrome Complete trisomy 21 syndrome Down syndrome Trisomy 21 Syndrome Trisomy 21 NOS Complete trisomy 21 syndrome (disorder) Down's syndrome - trisomy 21 Trisomy 21, Mitotic Nondisjunction Down's syndrome NOS (disorder) T21 - Trisomy 21 G Trisomy Mongolism Trisomy 21 |
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| Definitions |
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 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) |
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| ID |
http://www.ebi.ac.uk/efo/EFO_0001064 |
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| comment |
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 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) |
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| alternative term |
Trisomy 21, Meiotic Nondisjunction Down's syndrome NOS Partial Trisomy 21 Down Syndrome Down's Syndrome Complete trisomy 21 syndrome Down syndrome Trisomy 21 Syndrome Trisomy 21 NOS Complete trisomy 21 syndrome (disorder) Down's syndrome - trisomy 21 Trisomy 21, Mitotic Nondisjunction Down's syndrome NOS (disorder) T21 - Trisomy 21 G Trisomy Mongolism Trisomy 21 |
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| definition source |
GeneRIF:12459318 GeneRIF:11920898 GeneRIF:11565556 GeneRIF:11771762 GeneRIF:11331941 GeneRIF:15661359 GeneRIF:12895444 GeneRIF:11771757 GeneRIF:14636651 GeneRIF:14738882 GeneRIF:15068239 GeneRIF:11824616 GeneRIF:15068254 GeneRIF:11771755 GeneRIF:12515899 GeneRIF:11771749 GeneRIF:12393509 GeneRIF:15068245 GeneRIF:11856873 GeneRIF:12032275 GeneRIF:12771203 GeneRIF:12469345 GeneRIF:15068237 GeneRIF:12957488 GeneRIF:16274669 GeneRIF:12576745 GeneRIF:16222229 GeneRIF:15694837 GeneRIF:15184603 GeneRIF:12145461 GeneRIF:11771738 GeneRIF:11771745 GeneRIF:12499044 GeneRIF:12650976 GeneRIF:11771736 GeneRIF:15068243 GeneRIF:12796830 GeneRIF:14512321 GeneRIF:16231093 GeneRIF:12586620 GeneRIF:11771746 GeneRIF:12943237 GeneRIF:11771751 SNOMEDCT:41040004 GeneRIF:12400059 GeneRIF:14678752 GeneRIF:15169762 NIFSTD:nlx_dys_20090502 GeneRIF:15946822 GeneRIF:15358155 GeneRIF:11771764 GeneRIF:15068242 SNOMEDCT:254263008 GeneRIF:14615042 GeneRIF:15103709 GeneRIF:12931206 GeneRIF:15082224 GeneRIF:12816863 GeneRIF:11771750 GeneRIF:11810642 GeneRIF:15068241 GeneRIF:12767918 GeneRIF:12109594 GeneRIF:12172547 GeneRIF:12923861 GeneRIF:12080391 GeneRIF:14701734 GeneRIF:15068251 GeneRIF:15804423 GeneRIF:15255950 GeneRIF:11879646 GeneRIF:15820773 GeneRIF:14656875 GeneRIF:12529699 GeneRIF:12628594 MSH:D004314 GeneRIF:15068244 GeneRIF:11771758 GeneRIF:11771735 GeneRIF:12200143 GeneRIF:12359327 GeneRIF:12070657 DOID:14250 ICD9:758.0 NCIt:C2993 |
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| label |
Down's syndrome |
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| prefixIRI |
efo:EFO_0001064 |
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| prefLabel |
Down's syndrome |
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| see also | ||
| term editor |
Tomasz Adamusiak James Malone |
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| subClassOf |
http://purl.obolibrary.org/obo/DOID_1086 |
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