Preferred Name |
Complete Trisomy 21 Syndrome |
|
Synonyms |
|
|
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. |
|
ID |
http://purl.obolibrary.org/obo/NCIT_C101222 |
|
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. |
|
code |
C101222 |
|
Contributing_Source |
NICHD |
|
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. |
|
in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 |
|
label |
Complete Trisomy 21 Syndrome |
|
NCI_META_CUI |
CL435606 |
|
Preferred_Name |
Complete Trisomy 21 Syndrome |
|
prefixIRI |
NCIT:C101222 |
|
prefLabel |
Complete Trisomy 21 Syndrome |
|
Semantic_Type |
Disease or Syndrome |
|
subClassOf |