About: Complete Trisomy 13 Syndrome     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Complete Trisomy 13 Syndrome
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Complete Trisomy 13 Syndrome
UMLS_CUI
  • C0152095
Contributing_Source
  • NICHD
FULL_SYN
  • Complete Trisomy 13 SyndromePTNCI
  • Complete Trisomy 13 SyndromePTNICHD
DEFINITION
  • A syndrome characterized by the presence of three complete copies of genetic material for chromosome 13, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities.NCI
code
  • C101223
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