About: Pallister-Killian Syndrome     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Pallister-Killian Syndrome
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Pallister-Killian Syndrome
UMLS_CUI
  • C0265449
Contributing_Source
  • NICHD
Legacy_Concept_Name
  • Pallister_Killian_Syndrome
FULL_SYN
  • Pallister-Killian SyndromePTNCI
  • Pallister-Killian SyndromePTNICHD
DEFINITION
  • A very rare chromosomal disorder caused by tetrasomy of chromosome 12p. It is characterized by severe mental retardation, prominent forehead, sparse temporofrontal hair, hypertelorism, short nose, and streaks of hypopigmented skin.NCI
code
  • C75458
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