loading...| Preferred Name |
Down Syndrome |
| Synonyms |
Trisomy 21, Mitotic Nondisjunction |
| 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, single transverse palmar 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) |
| ID |
http://purl.bioontology.org/ontology/MESH/D004314 |
| altLabel |
Trisomy 21, Mitotic Nondisjunction Syndrome, Down Trisomy G Trisomy 21 Down's Syndrome Downs Syndrome 47,XY,+21 Trisomy 21, Meiotic Nondisjunction 47,XX,+21 Mongolism Down Syndrome, Partial Trisomy 21 Syndrome, Down's Partial Trisomy 21 Down Syndrome |
| 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 |
| cui |
C0751081 C0432417 C0013080 C0432416 |
| DC |
1 |
| definition |
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, single transverse palmar 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) |
| DX |
19930101 |
| HN |
93; was DOWN'S SYNDROME 1975-92 & 1963-64; was MONGOLISM 1965-74 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Machine permutation |
93; was DOWN'S SYNDROME 1975-92 & 1963-64; was MONGOLISM 1965-74 |
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C566023 http://purl.bioontology.org/ontology/MESH/C566025 |
| MDA |
19990101 |
| MMR |
20220523 |
| MN |
C10.597.606.360.220 C16.131.077.327 C16.320.180.260 C16.131.260.260 |
| notation |
D004314 |
| OL |
use DOWN SYNDROME to search DOWN'S SYNDROME 1975-92 & MONGOLISM 1966-74 |
| prefLabel |
Down Syndrome |
| TERMUI |
T013183 T013181 T845650 T845649 T369577 T369579 T013180 T369578 T369580 T013182 T841304 |
| TH |
NLM (1993) NLM (1992) NLM (2000) BIOETHICS (1989) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D008607 |