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Down Syndrome

Go to external page http://purl.bioontology.org/ontology/MESH/D004314

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 INTELLECTUAL DISABILITY. 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)

Instance info

Synonyms

Mongolismus (DE), Trisomy 21, Mitotic Nondisjunction, Trisomy 21, Meiotic Nondisjunction, Down-Syndrom (DE), Partial Trisomy 21 Down Syndrome, Down Syndrome, Partial Trisomy 21, Syndrome, Down's, Trisomy G, Trisomy 21, Down's Syndrome, 47,XY,+21, Syndrome, Down, 47,XX,+21, Mongolism, Downs Syndrome, Trisomie 21 (DE)

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

DC

1

DX

19930101

HN

93; was DOWN'S SYNDROME 1975-92 & 1963-64; was MONGOLISM 1965-74

MDA

19990101

MMR

20180630

MN

C16.131.260.260,C16.320.180.260,C10.597.606.360.220,C16.131.077.327

OL

use DOWN SYNDROME to search DOWN'S SYNDROME 1975-92 & MONGOLISM 1966-74

PM

93; was DOWN'S SYNDROME 1975-92 & 1963-64; was MONGOLISM 1965-74

QB

http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

SIB

http://purl.bioontology.org/ontology/MESH/D000073839,http://purl.bioontology.org/ontology/MESH/D015211,http://purl.bioontology.org/ontology/MESH/D058502,http://purl.bioontology.org/ontology/MESH/D011218,http://purl.bioontology.org/ontology/MESH/D025064,http://purl.bioontology.org/ontology/MESH/D058747,http://purl.bioontology.org/ontology/MESH/D014849,http://purl.bioontology.org/ontology/MESH/D000072661,http://purl.bioontology.org/ontology/MESH/D011535,http://purl.bioontology.org/ontology/MESH/D055947,http://purl.bioontology.org/ontology/MESH/D004476,http://purl.bioontology.org/ontology/MESH/D054975,http://purl.bioontology.org/ontology/MESH/D056830,http://purl.bioontology.org/ontology/MESH/D009800,http://purl.bioontology.org/ontology/MESH/D007184,http://purl.bioontology.org/ontology/MESH/D016878,http://purl.bioontology.org/ontology/MESH/D017204,http://purl.bioontology.org/ontology/MESH/D059446,http://purl.bioontology.org/ontology/MESH/D000073842,http://purl.bioontology.org/ontology/MESH/D016715,http://purl.bioontology.org/ontology/MESH/D001478,http://purl.bioontology.org/ontology/MESH/D020331,http://purl.bioontology.org/ontology/MESH/D003410,http://purl.bioontology.org/ontology/MESH/D003057,http://purl.bioontology.org/ontology/MESH/D018980,http://purl.bioontology.org/ontology/MESH/D054000,http://purl.bioontology.org/ontology/MESH/D009958,http://purl.bioontology.org/ontology/MESH/D058165,http://purl.bioontology.org/ontology/MESH/D007690,http://purl.bioontology.org/ontology/MESH/D008382,http://purl.bioontology.org/ontology/MESH/D007849,http://purl.bioontology.org/ontology/MESH/D054877,http://purl.bioontology.org/ontology/MESH/D056734,http://purl.bioontology.org/ontology/MESH/D056733,http://purl.bioontology.org/ontology/MESH/D056732,http://purl.bioontology.org/ontology/MESH/D056731,http://purl.bioontology.org/ontology/MESH/D056730,http://purl.bioontology.org/ontology/MESH/D001506,http://purl.bioontology.org/ontology/MESH/D019280,http://purl.bioontology.org/ontology/MESH/D056770,http://purl.bioontology.org/ontology/MESH/D019082,http://purl.bioontology.org/ontology/MESH/D058495,http://purl.bioontology.org/ontology/MESH/D012410,http://purl.bioontology.org/ontology/MESH/D058496,http://purl.bioontology.org/ontology/MESH/D058497,http://purl.bioontology.org/ontology/MESH/D017624,http://purl.bioontology.org/ontology/MESH/D038901,http://purl.bioontology.org/ontology/MESH/D016738,http://purl.bioontology.org/ontology/MESH/D009261,http://purl.bioontology.org/ontology/MESH/D012779,http://purl.bioontology.org/ontology/MESH/D012415,http://purl.bioontology.org/ontology/MESH/D054868,http://purl.bioontology.org/ontology/MESH/D005736,http://purl.bioontology.org/ontology/MESH/D056846,http://purl.bioontology.org/ontology/MESH/D056889,http://purl.bioontology.org/ontology/MESH/D044542,http://purl.bioontology.org/ontology/MESH/D001816,http://purl.bioontology.org/ontology/MESH/D056685,http://purl.bioontology.org/ontology/MESH/D016142,http://purl.bioontology.org/ontology/MESH/D054463,http://purl.bioontology.org/ontology/MESH/D054062,http://purl.bioontology.org/ontology/MESH/D003635

TERMUI

T013183,T013181,T369578,T013182,T369579,T369577,T013180,T845649,T841304,T845650,T369580

TH

GHR (2014),NLM (1993),NLM (1992),OMIM (2013),NLM (2000),BIOETHICS (1989)

cui

C0751081,C0432417,C0432416,C0013080

hasSTY

http://purl.bioontology.org/ontology/STY/T047

mapped from

http://purl.bioontology.org/ontology/MESH/C566024,http://purl.bioontology.org/ontology/MESH/C566023,http://purl.bioontology.org/ontology/MESH/C563551,http://purl.bioontology.org/ontology/MESH/C566025

tui

T047

Instance relations

Types