loading...| Preferred Name |
Down Syndrome |
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| Synonyms |
congenital acromicria syndrome |
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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 INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the ea (source : MSH) |
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| ID |
http://doe-generated-ontology.com/OntoAD#C0013080 |
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| altLabel |
congenital acromicria syndrome Syndrome de Down, sans précision chromosome; 21, trisomy syndrome de trisomie 21 MONGOLOIDISM Trisomy 21 syndrome G Trisomy Mongolism Down's syndrome T21 Trisomy 21 MONGOLISME trisomie 21 Chromosomal imbalance syndrome, pair 21, trisomy Mongol Trisomy 21 (Down Syndrome)Downs SyndromeTrisomy 21 Syndrome Complete trisomy 21 syndrome down s syndrome Down Langdon Down syndrome trisomy 21 Down syndrome chromosome 21 trisomy syndrome Langdon Down Trisomy 21 morbus Down |
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| clinically_associated_with | ||
| 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, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the ea (source : MSH) http://info.cancer.ca/f/glossary/S/Syndrome_de_Down.htm (source : CISMeF) |
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| has_associated_morphology | ||
| has_manifestation | ||
| has_severity | ||
| hiddenLabel |
DownSyndrome SyndromeDeDown |
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| prefixIRI |
OntoAD:C0013080 |
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| prefLabel |
Syndrome de Down Down Syndrome |
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| subClassOf |
http://doe-generated-ontology.com/OntoAD#C0265483 |