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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Preferred Name | Complete Trisomy 21 Syndrome | |
| Synonyms |
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| Definitions |
A syndrome characterized by the presence of three complete copies of genetic material for chromosome 21, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, macroglossia, microgenia, epicanthic eyelids, and a single transverse palmar crease. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C101222 |
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| ALT_DEFINITION |
A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. This condition is characterized by distinctive facial and physical features: short stature, developmental delay, cardiac defects (atrioventricular septal defect, tetralogy of Fallot), hypo- and hyperthyroidism, autoimmune disease (type 1 diabetes mellitus), and hypogonadism.
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| code |
C101222
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| Contributing_Source |
NICHD
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|
| definition |
A syndrome characterized by the presence of three complete copies of genetic material for chromosome 21, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, macroglossia, microgenia, epicanthic eyelids, and a single transverse palmar crease.
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 |
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| label |
Complete Trisomy 21 Syndrome
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| NCI_META_CUI |
CL435606
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| Preferred_Name |
Complete Trisomy 21 Syndrome
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| prefixIRI |
NCIT:C101222
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| prefLabel |
Complete Trisomy 21 Syndrome
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| Semantic_Type |
Disease or Syndrome
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| subClassOf |
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