About: Complete Trisomy 21 Syndrome     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Complete Trisomy 21 Syndrome
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Complete Trisomy 21 Syndrome
NCI_META_CUI
  • CL435606
Contributing_Source
  • NICHD
FULL_SYN
  • Complete Trisomy 21 SyndromePTNCI
  • Complete Trisomy 21 SyndromePTNICHD
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.NCI
code
  • C101222
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