About: Pallister-Killian Syndrome

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Attributes	Values
rdf:type	Class
rdfs:label	Pallister-Killian Syndrome
rdfs:subClassOf	Syndrome Rare Non-Neoplastic Disorder
Has_NICHD_Parent	Genetic Disorder
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
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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