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Last uploaded:
August 28, 2024
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| Preferred Name | Downs syndrome | |
| Synonyms |
trisomy 21 syndrome Down syndrome mongolism |
|
| Definitions |
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. |
|
| ID |
http://purl.bioontology.org/ontology/CSP/1254-8068 |
|
| altLabel |
trisomy 21 syndrome Down syndrome mongolism
|
|
| cui |
C0013080
|
|
| definition |
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.
|
|
| DID |
1254-8068
|
|
| Inverse of RB |
http://purl.bioontology.org/ontology/CSP/1840-2225 |
|
| Inverse of RO | ||
| notation |
1254-8068
|
|
| prefLabel |
Downs syndrome
|
|
| tui |
T047
|
|
| subClassOf |
http://purl.bioontology.org/ontology/CSP/1840-2225 |
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